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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: 11-62881316-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62881316&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC3A2",
"hgnc_id": 11026,
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001012662.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9891,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.777999997138977,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 529,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1590,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001013251.3",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338663.12",
"protein_coding": true,
"protein_id": "NP_001013269.1",
"strand": true,
"transcript": "NM_001013251.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 529,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1590,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000338663.12",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001013251.3",
"protein_coding": true,
"protein_id": "ENSP00000340815.7",
"strand": true,
"transcript": "ENST00000338663.12",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 630,
"aa_ref": "G",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 764,
"cds_end": null,
"cds_length": 1893,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000377890.6",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Gly199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367122.2",
"strand": true,
"transcript": "ENST00000377890.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 568,
"aa_ref": "G",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1707,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000377889.6",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Gly137Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367121.2",
"strand": true,
"transcript": "ENST00000377889.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 661,
"aa_ref": "G",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1986,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000538084.2",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Gly230Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440001.2",
"strand": true,
"transcript": "ENST00000538084.2",
"transcript_support_level": 3
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 654,
"aa_ref": "G",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 829,
"cds_end": null,
"cds_length": 1965,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000681569.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Gly223Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506498.1",
"strand": true,
"transcript": "ENST00000681569.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 760,
"cds_end": null,
"cds_length": 1896,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001012662.3",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001012680.1",
"strand": true,
"transcript": "NM_001012662.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1896,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000377891.6",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.599G>A",
"hgvs_p": "p.Gly200Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367123.2",
"strand": true,
"transcript": "ENST00000377891.6",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 630,
"aa_ref": "G",
"aa_start": 199,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 757,
"cds_end": null,
"cds_length": 1893,
"cds_start": 596,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002394.6",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.596G>A",
"hgvs_p": "p.Gly199Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002385.3",
"strand": true,
"transcript": "NM_002394.6",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 623,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1872,
"cds_start": 575,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000681467.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Gly192Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506217.1",
"strand": true,
"transcript": "ENST00000681467.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 616,
"aa_ref": "G",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1851,
"cds_start": 554,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000680725.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.554G>A",
"hgvs_p": "p.Gly185Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505585.1",
"strand": true,
"transcript": "ENST00000680725.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 603,
"aa_ref": "G",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2265,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1812,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000680729.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Gly168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505639.1",
"strand": true,
"transcript": "ENST00000680729.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 599,
"aa_ref": "G",
"aa_start": 168,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1800,
"cds_start": 503,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000535296.5",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.503G>A",
"hgvs_p": "p.Gly168Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444236.1",
"strand": true,
"transcript": "ENST00000535296.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 576,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1731,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926685.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596744.1",
"strand": true,
"transcript": "ENST00000926685.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 576,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1731,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000926690.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596749.1",
"strand": true,
"transcript": "ENST00000926690.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 576,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1731,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000926692.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596751.1",
"strand": true,
"transcript": "ENST00000926692.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 576,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 639,
"cds_end": null,
"cds_length": 1731,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926694.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596753.1",
"strand": true,
"transcript": "ENST00000926694.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 576,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2078,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1731,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971952.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642011.1",
"strand": true,
"transcript": "ENST00000971952.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 576,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1731,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000971953.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642012.1",
"strand": true,
"transcript": "ENST00000971953.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 575,
"aa_ref": "G",
"aa_start": 98,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 421,
"cds_end": null,
"cds_length": 1728,
"cds_start": 293,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000908668.1",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Gly98Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578727.1",
"strand": true,
"transcript": "ENST00000908668.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 568,
"aa_ref": "G",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 571,
"cds_end": null,
"cds_length": 1707,
"cds_start": 410,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001012664.3",
"gene_hgnc_id": 11026,
"gene_symbol": "SLC3A2",
"hgvs_c": "c.410G>A",
"hgvs_p": "p.Gly137Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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}
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]
}