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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: 6-169769610-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169769610&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169769610,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018341.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "NM_018341.3",
"protein_id": "NP_060811.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 678,
"cds_start": 1130,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366773.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018341.3"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "ENST00000366773.8",
"protein_id": "ENSP00000355735.3",
"transcript_support_level": 2,
"aa_start": 377,
"aa_end": null,
"aa_length": 678,
"cds_start": 1130,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018341.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366773.8"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "ENST00000418781.7",
"protein_id": "ENSP00000397661.2",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 605,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418781.7"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "ENST00000854211.1",
"protein_id": "ENSP00000524270.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 684,
"cds_start": 1130,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854211.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Ile367Asn",
"transcript": "ENST00000971715.1",
"protein_id": "ENSP00000641774.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 668,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971715.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "ENST00000854213.1",
"protein_id": "ENSP00000524272.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 658,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854213.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "ENST00000940706.1",
"protein_id": "ENSP00000610765.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 640,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940706.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "NM_001278531.2",
"protein_id": "NP_001265460.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 631,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278531.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "ENST00000366772.6",
"protein_id": "ENSP00000355734.1",
"transcript_support_level": 5,
"aa_start": 377,
"aa_end": null,
"aa_length": 631,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366772.6"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Ile367Asn",
"transcript": "ENST00000940707.1",
"protein_id": "ENSP00000610766.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 621,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940707.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "NM_001278533.2",
"protein_id": "NP_001265462.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 605,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278533.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.752T>A",
"hgvs_p": "p.Ile251Asn",
"transcript": "NM_001278532.2",
"protein_id": "NP_001265461.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 552,
"cds_start": 752,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278532.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.752T>A",
"hgvs_p": "p.Ile251Asn",
"transcript": "ENST00000392095.8",
"protein_id": "ENSP00000375945.4",
"transcript_support_level": 2,
"aa_start": 251,
"aa_end": null,
"aa_length": 552,
"cds_start": 752,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392095.8"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.722T>A",
"hgvs_p": "p.Ile241Asn",
"transcript": "NM_001410957.1",
"protein_id": "NP_001397886.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 542,
"cds_start": 722,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410957.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.722T>A",
"hgvs_p": "p.Ile241Asn",
"transcript": "ENST00000588451.1",
"protein_id": "ENSP00000468240.1",
"transcript_support_level": 5,
"aa_start": 241,
"aa_end": null,
"aa_length": 542,
"cds_start": 722,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588451.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.719T>A",
"hgvs_p": "p.Ile240Asn",
"transcript": "ENST00000971714.1",
"protein_id": "ENSP00000641773.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 541,
"cds_start": 719,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971714.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.821T>A",
"hgvs_p": "p.Ile274Asn",
"transcript": "ENST00000854212.1",
"protein_id": "ENSP00000524271.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 528,
"cds_start": 821,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854212.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Ile367Asn",
"transcript": "XM_011535938.4",
"protein_id": "XP_011534240.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 668,
"cds_start": 1100,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535938.4"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Ile367Asn",
"transcript": "XM_047419018.1",
"protein_id": "XP_047274974.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 595,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419018.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1130T>A",
"hgvs_p": "p.Ile377Asn",
"transcript": "XM_047419019.1",
"protein_id": "XP_047274975.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 588,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419019.1"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.791T>A",
"hgvs_p": "p.Ile264Asn",
"transcript": "XM_017011030.2",
"protein_id": "XP_016866519.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 565,
"cds_start": 791,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011030.2"
},
{
"aa_ref": "I",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.791T>A",
"hgvs_p": "p.Ile264Asn",
"transcript": "XM_017011031.2",
"protein_id": "XP_016866520.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 565,
"cds_start": 791,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
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],
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"computational_score_selected": 0.7549847364425659,
"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 4,
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"acmg_by_gene": [
{
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"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"clinvar_disease": "Periventricular nodular heterotopia 6",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Periventricular nodular heterotopia 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}