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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: 2-86106264-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86106264&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86106264,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017952.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "NM_017952.6",
"protein_id": "NP_060422.4",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 689,
"cds_start": 17,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000254630.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017952.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000254630.12",
"protein_id": "ENSP00000254630.7",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 689,
"cds_start": 17,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017952.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000254630.12"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898160.1",
"protein_id": "ENSP00000568219.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 695,
"cds_start": 17,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898160.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898158.1",
"protein_id": "ENSP00000568217.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 690,
"cds_start": 17,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898158.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898161.1",
"protein_id": "ENSP00000568220.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 689,
"cds_start": 17,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898161.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898153.1",
"protein_id": "ENSP00000568212.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 688,
"cds_start": 17,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898153.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898164.1",
"protein_id": "ENSP00000568223.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 688,
"cds_start": 17,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898164.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898155.1",
"protein_id": "ENSP00000568214.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 687,
"cds_start": 17,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898155.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000938581.1",
"protein_id": "ENSP00000608640.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 684,
"cds_start": 17,
"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": "ENST00000938581.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898162.1",
"protein_id": "ENSP00000568221.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 679,
"cds_start": 17,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898162.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898163.1",
"protein_id": "ENSP00000568222.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 672,
"cds_start": 17,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898163.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898156.1",
"protein_id": "ENSP00000568215.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 671,
"cds_start": 17,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898156.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000938580.1",
"protein_id": "ENSP00000608639.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 669,
"cds_start": 17,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938580.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000971271.1",
"protein_id": "ENSP00000641330.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 654,
"cds_start": 17,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971271.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000938579.1",
"protein_id": "ENSP00000608638.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 651,
"cds_start": 17,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938579.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898157.1",
"protein_id": "ENSP00000568216.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 642,
"cds_start": 17,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898157.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898152.1",
"protein_id": "ENSP00000568211.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 640,
"cds_start": 17,
"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": "ENST00000898152.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000971274.1",
"protein_id": "ENSP00000641333.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 639,
"cds_start": 17,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971274.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000971272.1",
"protein_id": "ENSP00000641331.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 638,
"cds_start": 17,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971272.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898151.1",
"protein_id": "ENSP00000568210.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 636,
"cds_start": 17,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898151.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898159.1",
"protein_id": "ENSP00000568218.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 631,
"cds_start": 17,
"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": "ENST00000898159.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTCD3",
"gene_hgnc_id": 24717,
"hgvs_c": "c.17C>T",
"hgvs_p": "p.Ala6Val",
"transcript": "ENST00000898154.1",
"protein_id": "ENSP00000568213.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 622,
"cds_start": 17,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898154.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
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"protein_coding": true,
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -2,
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"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_017952.6",
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"effects": [
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{
"score": -4,
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000409681.1",
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],
"inheritance_mode": "AD,AR",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}