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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: 7-100204096-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100204096&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100204096,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000615138.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "NM_001282717.2",
"protein_id": "NP_001269646.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": "ENST00000615138.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "ENST00000615138.5",
"protein_id": "ENSP00000477973.1",
"transcript_support_level": 1,
"aa_start": 926,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": "NM_001282717.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "ENST00000317296.9",
"protein_id": "ENSP00000319318.5",
"transcript_support_level": 1,
"aa_start": 926,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 2930,
"cdna_end": null,
"cdna_length": 4198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "ENST00000426455.5",
"protein_id": "ENSP00000400359.1",
"transcript_support_level": 1,
"aa_start": 926,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 3183,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CASTOR3P",
"gene_hgnc_id": null,
"hgvs_c": "n.1576-1493G>T",
"hgvs_p": null,
"transcript": "ENST00000328453.9",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "n.2695-1213C>A",
"hgvs_p": null,
"transcript": "ENST00000496157.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CASTOR3P",
"gene_hgnc_id": null,
"hgvs_c": "n.890-1493G>T",
"hgvs_p": null,
"transcript": "ENST00000543273.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "NM_001375438.1",
"protein_id": "NP_001362367.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "NM_001282716.1",
"protein_id": "NP_001269645.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "NM_012447.4",
"protein_id": "NP_036579.2",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2602C>A",
"hgvs_p": "p.Arg868Arg",
"transcript": "NM_001282718.2",
"protein_id": "NP_001269647.1",
"transcript_support_level": null,
"aa_start": 868,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 2721,
"cdna_end": null,
"cdna_length": 3989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2602C>A",
"hgvs_p": "p.Arg868Arg",
"transcript": "ENST00000394018.6",
"protein_id": "ENSP00000377586.2",
"transcript_support_level": 2,
"aa_start": 868,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2602C>A",
"hgvs_p": "p.Arg868Arg",
"transcript": "ENST00000620100.5",
"protein_id": "ENSP00000484098.1",
"transcript_support_level": 5,
"aa_start": 868,
"aa_end": null,
"aa_length": 1167,
"cds_start": 2602,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 2719,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "XM_017011684.2",
"protein_id": "XP_016867173.2",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 4130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "XM_017011685.2",
"protein_id": "XP_016867174.2",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 4257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "XM_047419786.1",
"protein_id": "XP_047275742.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2776,
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"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "XM_047419787.1",
"protein_id": "XP_047275743.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1242,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 4220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "XM_017011686.3",
"protein_id": "XP_016867175.2",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1241,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "XM_017011683.3",
"protein_id": "XP_016867172.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1239,
"cds_start": 2776,
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"cdna_start": 2928,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "XM_047419788.1",
"protein_id": "XP_047275744.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2776,
"cds_end": null,
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"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "XM_047419789.1",
"protein_id": "XP_047275745.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1226,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 2985,
"cdna_end": null,
"cdna_length": 4262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
"gene_hgnc_id": 11356,
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg",
"transcript": "XM_047419790.1",
"protein_id": "XP_047275746.1",
"transcript_support_level": null,
"aa_start": 926,
"aa_end": null,
"aa_length": 1225,
"cds_start": 2776,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 2895,
"cdna_end": null,
"cdna_length": 4169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG3",
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"transcript": "NR_166147.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
}
],
"gene_symbol": "STAG3",
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"dbsnp": "rs764841861",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84118e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.20000000298023224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.705,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000615138.5",
"gene_symbol": "STAG3",
"hgnc_id": 11356,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2776C>A",
"hgvs_p": "p.Arg926Arg"
},
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000328453.9",
"gene_symbol": "CASTOR3P",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1576-1493G>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000718499.1",
"gene_symbol": "ENSG00000293698",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1015-1493G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}