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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: X-154352222-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154352222&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154352222,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001110556.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6728C>G",
"hgvs_p": "p.Ala2243Gly",
"transcript": "NM_001110556.2",
"protein_id": "NP_001104026.1",
"transcript_support_level": null,
"aa_start": 2243,
"aa_end": null,
"aa_length": 2647,
"cds_start": 6728,
"cds_end": null,
"cds_length": 7944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369850.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001110556.2"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6728C>G",
"hgvs_p": "p.Ala2243Gly",
"transcript": "ENST00000369850.10",
"protein_id": "ENSP00000358866.3",
"transcript_support_level": 1,
"aa_start": 2243,
"aa_end": null,
"aa_length": 2647,
"cds_start": 6728,
"cds_end": null,
"cds_length": 7944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001110556.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369850.10"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6704C>G",
"hgvs_p": "p.Ala2235Gly",
"transcript": "ENST00000360319.9",
"protein_id": "ENSP00000353467.4",
"transcript_support_level": 1,
"aa_start": 2235,
"aa_end": null,
"aa_length": 2639,
"cds_start": 6704,
"cds_end": null,
"cds_length": 7920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360319.9"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6647C>G",
"hgvs_p": "p.Ala2216Gly",
"transcript": "ENST00000369856.8",
"protein_id": "ENSP00000358872.4",
"transcript_support_level": 1,
"aa_start": 2216,
"aa_end": null,
"aa_length": 2620,
"cds_start": 6647,
"cds_end": null,
"cds_length": 7863,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369856.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.2717C>G",
"hgvs_p": null,
"transcript": "ENST00000490936.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490936.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6737C>G",
"hgvs_p": "p.Ala2246Gly",
"transcript": "ENST00000888339.1",
"protein_id": "ENSP00000558398.1",
"transcript_support_level": null,
"aa_start": 2246,
"aa_end": null,
"aa_length": 2650,
"cds_start": 6737,
"cds_end": null,
"cds_length": 7953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888339.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6713C>G",
"hgvs_p": "p.Ala2238Gly",
"transcript": "ENST00000888343.1",
"protein_id": "ENSP00000558402.1",
"transcript_support_level": null,
"aa_start": 2238,
"aa_end": null,
"aa_length": 2642,
"cds_start": 6713,
"cds_end": null,
"cds_length": 7929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888343.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6704C>G",
"hgvs_p": "p.Ala2235Gly",
"transcript": "NM_001456.4",
"protein_id": "NP_001447.2",
"transcript_support_level": null,
"aa_start": 2235,
"aa_end": null,
"aa_length": 2639,
"cds_start": 6704,
"cds_end": null,
"cds_length": 7920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001456.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6701C>G",
"hgvs_p": "p.Ala2234Gly",
"transcript": "ENST00000888340.1",
"protein_id": "ENSP00000558399.1",
"transcript_support_level": null,
"aa_start": 2234,
"aa_end": null,
"aa_length": 2638,
"cds_start": 6701,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888340.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6704C>G",
"hgvs_p": "p.Ala2235Gly",
"transcript": "ENST00000964813.1",
"protein_id": "ENSP00000634872.1",
"transcript_support_level": null,
"aa_start": 2235,
"aa_end": null,
"aa_length": 2638,
"cds_start": 6704,
"cds_end": null,
"cds_length": 7917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964813.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6680C>G",
"hgvs_p": "p.Ala2227Gly",
"transcript": "ENST00000888341.1",
"protein_id": "ENSP00000558400.1",
"transcript_support_level": null,
"aa_start": 2227,
"aa_end": null,
"aa_length": 2631,
"cds_start": 6680,
"cds_end": null,
"cds_length": 7896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888341.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6608C>G",
"hgvs_p": "p.Ala2203Gly",
"transcript": "ENST00000888338.1",
"protein_id": "ENSP00000558397.1",
"transcript_support_level": null,
"aa_start": 2203,
"aa_end": null,
"aa_length": 2607,
"cds_start": 6608,
"cds_end": null,
"cds_length": 7824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888338.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6503C>G",
"hgvs_p": "p.Ala2168Gly",
"transcript": "ENST00000934717.1",
"protein_id": "ENSP00000604776.1",
"transcript_support_level": null,
"aa_start": 2168,
"aa_end": null,
"aa_length": 2572,
"cds_start": 6503,
"cds_end": null,
"cds_length": 7719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934717.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.6137C>G",
"hgvs_p": "p.Ala2046Gly",
"transcript": "ENST00000888342.1",
"protein_id": "ENSP00000558401.1",
"transcript_support_level": null,
"aa_start": 2046,
"aa_end": null,
"aa_length": 2450,
"cds_start": 6137,
"cds_end": null,
"cds_length": 7353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888342.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.5738C>G",
"hgvs_p": "p.Ala1913Gly",
"transcript": "ENST00000888344.1",
"protein_id": "ENSP00000558403.1",
"transcript_support_level": null,
"aa_start": 1913,
"aa_end": null,
"aa_length": 2317,
"cds_start": 5738,
"cds_end": null,
"cds_length": 6954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888344.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.3509C>G",
"hgvs_p": "p.Ala1170Gly",
"transcript": "ENST00000422373.6",
"protein_id": "ENSP00000416926.2",
"transcript_support_level": 5,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1574,
"cds_start": 3509,
"cds_end": null,
"cds_length": 4725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422373.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.548C>G",
"hgvs_p": "p.Ala183Gly",
"transcript": "ENST00000444578.1",
"protein_id": "ENSP00000397824.1",
"transcript_support_level": 3,
"aa_start": 183,
"aa_end": null,
"aa_length": 280,
"cds_start": 548,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444578.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.2065-1196C>G",
"hgvs_p": null,
"transcript": "ENST00000964814.1",
"protein_id": "ENSP00000634873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 989,
"cds_start": null,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964814.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.278-3532C>G",
"hgvs_p": null,
"transcript": "ENST00000673639.2",
"protein_id": "ENSP00000501210.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 95,
"cds_start": null,
"cds_end": null,
"cds_length": 288,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673639.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*4869C>G",
"hgvs_p": null,
"transcript": "ENST00000420627.5",
"protein_id": "ENSP00000408921.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000420627.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.361C>G",
"hgvs_p": null,
"transcript": "ENST00000474358.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000474358.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*5336C>G",
"hgvs_p": null,
"transcript": "ENST00000610817.5",
"protein_id": "ENSP00000480593.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000610817.5"
},
{
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"protein_id": "ENSP00000408921.1",
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{
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"protein_coding": false,
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],
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"exon_count": 48,
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{
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"3_prime_UTR_variant"
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"gene_symbol": "FLNA",
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{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "FLNA",
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"hgvs_c": "n.67+595C>G",
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"transcript": "ENST00000498411.1",
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498411.1"
}
],
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"dbsnp": "rs953454766",
"frequency_reference_population": 0.00002396815,
"hom_count_reference_population": 9,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000237069,
"gnomad_genomes_af": 0.0000264985,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8962530493736267,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.789,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4925,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.888,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001110556.2",
"gene_symbol": "FLNA",
"hgnc_id": 3754,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD,AR,Unknown",
"hgvs_c": "c.6728C>G",
"hgvs_p": "p.Ala2243Gly"
}
],
"clinvar_disease": " X-linked, X-linked dominant, periventricular, type II,Cardiac valvular dysplasia,Familial thoracic aortic aneurysm and aortic dissection,Frontometaphyseal dysplasia,Heterotopia,Melnick-Needles syndrome,Oto-palato-digital syndrome,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"phenotype_combined": "Melnick-Needles syndrome;Oto-palato-digital syndrome, type II;Frontometaphyseal dysplasia;Heterotopia, periventricular, X-linked dominant|not provided|Familial thoracic aortic aneurysm and aortic dissection|not specified|Cardiac valvular dysplasia, X-linked",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}