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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: 16-30006870-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30006870&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30006870,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_003586.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "NM_003586.3",
"protein_id": "NP_003577.2",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350119.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003586.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000350119.9",
"protein_id": "ENSP00000340017.4",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003586.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350119.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000564979.5",
"protein_id": "ENSP00000455624.1",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564979.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000616445.4",
"protein_id": "ENSP00000482870.1",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616445.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "NM_001282062.1",
"protein_id": "NP_001268991.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282062.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "NM_001282063.2",
"protein_id": "NP_001268992.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282063.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "NM_001282068.2",
"protein_id": "NP_001268997.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282068.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000564944.5",
"protein_id": "ENSP00000455196.1",
"transcript_support_level": 5,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564944.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861623.1",
"protein_id": "ENSP00000531682.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861623.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861624.1",
"protein_id": "ENSP00000531683.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861624.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861625.1",
"protein_id": "ENSP00000531684.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861625.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861626.1",
"protein_id": "ENSP00000531685.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861626.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861627.1",
"protein_id": "ENSP00000531686.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861627.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861629.1",
"protein_id": "ENSP00000531688.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861629.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861630.1",
"protein_id": "ENSP00000531689.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861630.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861631.1",
"protein_id": "ENSP00000531690.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861631.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861632.1",
"protein_id": "ENSP00000531691.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861632.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000861633.1",
"protein_id": "ENSP00000531692.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861633.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000934550.1",
"protein_id": "ENSP00000604609.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934550.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000934551.1",
"protein_id": "ENSP00000604610.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934551.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000934552.1",
"protein_id": "ENSP00000604611.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934552.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOC2A",
"gene_hgnc_id": 2985,
"hgvs_c": "c.793C>T",
"hgvs_p": "p.Arg265Cys",
"transcript": "ENST00000934553.1",
"protein_id": "ENSP00000604612.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 400,
"cds_start": 793,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003586.3",
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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
}