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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: 16-84179828-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84179828&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 84179828,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005679.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "NM_001243156.2",
"protein_id": "NP_001230085.2",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000566732.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243156.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000566732.6",
"protein_id": "ENSP00000455933.1",
"transcript_support_level": 2,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001243156.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566732.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1441T>G",
"hgvs_p": "p.Leu481Val",
"transcript": "ENST00000341690.10",
"protein_id": "ENSP00000345305.6",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 775,
"cds_start": 1441,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341690.10"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1723T>G",
"hgvs_p": "p.Leu575Val",
"transcript": "NM_005679.4",
"protein_id": "NP_005670.4",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 869,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005679.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1723T>G",
"hgvs_p": "p.Leu575Val",
"transcript": "ENST00000567759.5",
"protein_id": "ENSP00000455265.1",
"transcript_support_level": 2,
"aa_start": 575,
"aa_end": null,
"aa_length": 869,
"cds_start": 1723,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567759.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1669T>G",
"hgvs_p": "p.Leu557Val",
"transcript": "ENST00000898189.1",
"protein_id": "ENSP00000568248.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 851,
"cds_start": 1669,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898189.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1654T>G",
"hgvs_p": "p.Leu552Val",
"transcript": "ENST00000898186.1",
"protein_id": "ENSP00000568245.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 846,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898186.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000898178.1",
"protein_id": "ENSP00000568237.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898178.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000898179.1",
"protein_id": "ENSP00000568238.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898179.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000898181.1",
"protein_id": "ENSP00000568240.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898181.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000898182.1",
"protein_id": "ENSP00000568241.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898182.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000898183.1",
"protein_id": "ENSP00000568242.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898183.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000898184.1",
"protein_id": "ENSP00000568243.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898184.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000898185.1",
"protein_id": "ENSP00000568244.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898185.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000898188.1",
"protein_id": "ENSP00000568247.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898188.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000919616.1",
"protein_id": "ENSP00000589675.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919616.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000963848.1",
"protein_id": "ENSP00000633907.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963848.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000963850.1",
"protein_id": "ENSP00000633909.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963850.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000963851.1",
"protein_id": "ENSP00000633910.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963851.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000963852.1",
"protein_id": "ENSP00000633911.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963852.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000963854.1",
"protein_id": "ENSP00000633913.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963854.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAF1C",
"gene_hgnc_id": 11534,
"hgvs_c": "c.1645T>G",
"hgvs_p": "p.Leu549Val",
"transcript": "ENST00000963855.1",
"protein_id": "ENSP00000633914.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 843,
"cds_start": 1645,
"cds_end": null,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.76,
"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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{
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"criteria": [
"PM2",
"BP4_Strong"
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"verdict": "Likely_benign",
"transcript": "NM_005679.4",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Leu575Val"
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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
}