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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-154358449-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154358449&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154358449,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001110556.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4594C>G",
"hgvs_p": "p.Arg1532Gly",
"transcript": "NM_001110556.2",
"protein_id": "NP_001104026.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 2647,
"cds_start": 4594,
"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": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4594C>G",
"hgvs_p": "p.Arg1532Gly",
"transcript": "ENST00000369850.10",
"protein_id": "ENSP00000358866.3",
"transcript_support_level": 1,
"aa_start": 1532,
"aa_end": null,
"aa_length": 2647,
"cds_start": 4594,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4594C>G",
"hgvs_p": "p.Arg1532Gly",
"transcript": "ENST00000360319.9",
"protein_id": "ENSP00000353467.4",
"transcript_support_level": 1,
"aa_start": 1532,
"aa_end": null,
"aa_length": 2639,
"cds_start": 4594,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4513C>G",
"hgvs_p": "p.Arg1505Gly",
"transcript": "ENST00000369856.8",
"protein_id": "ENSP00000358872.4",
"transcript_support_level": 1,
"aa_start": 1505,
"aa_end": null,
"aa_length": 2620,
"cds_start": 4513,
"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": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.607C>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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4627C>G",
"hgvs_p": "p.Arg1543Gly",
"transcript": "ENST00000888339.1",
"protein_id": "ENSP00000558398.1",
"transcript_support_level": null,
"aa_start": 1543,
"aa_end": null,
"aa_length": 2650,
"cds_start": 4627,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4579C>G",
"hgvs_p": "p.Arg1527Gly",
"transcript": "ENST00000888343.1",
"protein_id": "ENSP00000558402.1",
"transcript_support_level": null,
"aa_start": 1527,
"aa_end": null,
"aa_length": 2642,
"cds_start": 4579,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4594C>G",
"hgvs_p": "p.Arg1532Gly",
"transcript": "NM_001456.4",
"protein_id": "NP_001447.2",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 2639,
"cds_start": 4594,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4591C>G",
"hgvs_p": "p.Arg1531Gly",
"transcript": "ENST00000888340.1",
"protein_id": "ENSP00000558399.1",
"transcript_support_level": null,
"aa_start": 1531,
"aa_end": null,
"aa_length": 2638,
"cds_start": 4591,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4594C>G",
"hgvs_p": "p.Arg1532Gly",
"transcript": "ENST00000964813.1",
"protein_id": "ENSP00000634872.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 2638,
"cds_start": 4594,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4570C>G",
"hgvs_p": "p.Arg1524Gly",
"transcript": "ENST00000888341.1",
"protein_id": "ENSP00000558400.1",
"transcript_support_level": null,
"aa_start": 1524,
"aa_end": null,
"aa_length": 2631,
"cds_start": 4570,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4594C>G",
"hgvs_p": "p.Arg1532Gly",
"transcript": "ENST00000888338.1",
"protein_id": "ENSP00000558397.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 2607,
"cds_start": 4594,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4393C>G",
"hgvs_p": "p.Arg1465Gly",
"transcript": "ENST00000934717.1",
"protein_id": "ENSP00000604776.1",
"transcript_support_level": null,
"aa_start": 1465,
"aa_end": null,
"aa_length": 2572,
"cds_start": 4393,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4003C>G",
"hgvs_p": "p.Arg1335Gly",
"transcript": "ENST00000888342.1",
"protein_id": "ENSP00000558401.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 2450,
"cds_start": 4003,
"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": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.4594C>G",
"hgvs_p": "p.Arg1532Gly",
"transcript": "ENST00000888344.1",
"protein_id": "ENSP00000558403.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 2317,
"cds_start": 4594,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "c.3160+2906C>G",
"hgvs_p": null,
"transcript": "ENST00000422373.6",
"protein_id": "ENSP00000416926.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1574,
"cds_start": null,
"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": 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.2064+5882C>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.277+6987C>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": 26,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*2735C>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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.216C>G",
"hgvs_p": null,
"transcript": "ENST00000466319.1",
"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": "ENST00000466319.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*3202C>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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLNA",
"gene_hgnc_id": 3754,
"hgvs_c": "n.*3202C>G",
"hgvs_p": null,
"transcript": "ENST00000676696.1",
"protein_id": "ENSP00000503392.1",
"transcript_support_level": null,
"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": "ENST00000676696.1"
},
{
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.5202226638793945,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.30000001192092896,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.469,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3014,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.66,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.3,
"spliceai_max_prediction": "Uncertain_significance",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_001110556.2",
"gene_symbol": "FLNA",
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"effects": [
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"inheritance_mode": "XL,AD,AR",
"hgvs_c": "c.4594C>G",
"hgvs_p": "p.Arg1532Gly"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}