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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: 5-177091024-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177091024&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 177091024,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002011.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "NM_213647.3",
"protein_id": "NP_998812.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292408.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213647.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000292408.9",
"protein_id": "ENSP00000292408.4",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_213647.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292408.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000502906.5",
"protein_id": "ENSP00000424960.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502906.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000393637.5",
"protein_id": "ENSP00000377254.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 762,
"cds_start": 523,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393637.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "n.640G>A",
"hgvs_p": null,
"transcript": "ENST00000426612.5",
"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": "ENST00000426612.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "n.*387G>A",
"hgvs_p": null,
"transcript": "ENST00000430285.5",
"protein_id": "ENSP00000395164.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000430285.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "n.523G>A",
"hgvs_p": null,
"transcript": "ENST00000509511.5",
"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": "ENST00000509511.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "n.*387G>A",
"hgvs_p": null,
"transcript": "ENST00000430285.5",
"protein_id": "ENSP00000395164.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000430285.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000934151.1",
"protein_id": "ENSP00000604210.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 825,
"cds_start": 592,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934151.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.544G>A",
"hgvs_p": "p.Ala182Thr",
"transcript": "ENST00000885513.1",
"protein_id": "ENSP00000555572.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 809,
"cds_start": 544,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885513.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000934150.1",
"protein_id": "ENSP00000604209.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 807,
"cds_start": 523,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934150.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000961679.1",
"protein_id": "ENSP00000631738.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 807,
"cds_start": 523,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961679.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "NM_001354984.2",
"protein_id": "NP_001341913.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354984.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "NM_002011.5",
"protein_id": "NP_002002.3",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002011.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000885509.1",
"protein_id": "ENSP00000555568.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885509.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000885515.1",
"protein_id": "ENSP00000555574.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885515.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000885516.1",
"protein_id": "ENSP00000555575.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885516.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000885523.1",
"protein_id": "ENSP00000555582.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885523.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000885524.1",
"protein_id": "ENSP00000555583.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885524.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000885525.1",
"protein_id": "ENSP00000555584.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885525.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000885527.1",
"protein_id": "ENSP00000555586.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885527.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FGFR4",
"gene_hgnc_id": 3691,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Ala175Thr",
"transcript": "ENST00000885528.1",
"protein_id": "ENSP00000555587.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 802,
"cds_start": 523,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885528.1"
},
{
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_002011.5",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}