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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: 9-91220824-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=91220824&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 91220824,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001698.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "NM_001698.3",
"protein_id": "NP_001689.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 339,
"cds_start": 824,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000375731.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001698.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "ENST00000375731.9",
"protein_id": "ENSP00000364883.5",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 339,
"cds_start": 824,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001698.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375731.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"transcript": "ENST00000303617.5",
"protein_id": "ENSP00000307334.5",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 310,
"cds_start": 737,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000303617.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ala285Val",
"transcript": "ENST00000895926.1",
"protein_id": "ENSP00000565985.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 349,
"cds_start": 854,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895926.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "ENST00000895928.1",
"protein_id": "ENSP00000565987.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 322,
"cds_start": 824,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895928.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Ala256Val",
"transcript": "ENST00000968996.1",
"protein_id": "ENSP00000639055.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 320,
"cds_start": 767,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968996.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"transcript": "NM_001306190.2",
"protein_id": "NP_001293119.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 310,
"cds_start": 737,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306190.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"transcript": "ENST00000895923.1",
"protein_id": "ENSP00000565982.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 308,
"cds_start": 731,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895923.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.824C>T",
"hgvs_p": "p.Ala275Val",
"transcript": "ENST00000895919.1",
"protein_id": "ENSP00000565978.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 306,
"cds_start": 824,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895919.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.674C>T",
"hgvs_p": "p.Ala225Val",
"transcript": "ENST00000895922.1",
"protein_id": "ENSP00000565981.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 289,
"cds_start": 674,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895922.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Ala223Val",
"transcript": "ENST00000895920.1",
"protein_id": "ENSP00000565979.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 287,
"cds_start": 668,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895920.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.737C>T",
"hgvs_p": "p.Ala246Val",
"transcript": "ENST00000895927.1",
"protein_id": "ENSP00000565986.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 277,
"cds_start": 737,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895927.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000895921.1",
"protein_id": "ENSP00000565980.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 260,
"cds_start": 587,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895921.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ala194Val",
"transcript": "ENST00000895924.1",
"protein_id": "ENSP00000565983.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 258,
"cds_start": 581,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895924.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"transcript": "NM_001351431.2",
"protein_id": "NP_001338360.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 230,
"cds_start": 497,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351431.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"transcript": "NM_001351432.2",
"protein_id": "NP_001338361.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 230,
"cds_start": 497,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351432.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.587C>T",
"hgvs_p": "p.Ala196Val",
"transcript": "ENST00000968997.1",
"protein_id": "ENSP00000639056.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 227,
"cds_start": 587,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968997.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.497C>T",
"hgvs_p": "p.Ala166Val",
"transcript": "NM_001351433.2",
"protein_id": "NP_001338362.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 214,
"cds_start": 497,
"cds_end": null,
"cds_length": 645,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351433.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000895925.1",
"protein_id": "ENSP00000565984.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 208,
"cds_start": 431,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895925.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.431C>T",
"hgvs_p": "p.Ala144Val",
"transcript": "ENST00000968995.1",
"protein_id": "ENSP00000639054.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 175,
"cds_start": 431,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968995.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"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": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ala285Val",
"transcript": "XM_005252066.4",
"protein_id": "XP_005252123.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 349,
"cds_start": 854,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252066.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.854C>T",
"hgvs_p": "p.Ala285Val",
"transcript": "XM_005252067.5",
"protein_id": "XP_005252124.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 333,
"cds_start": 854,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252067.5"
},
{
"aa_ref": "A",
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"canonical": false,
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],
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"dbsnp": "rs748318386",
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"computational_score_selected": 0.8941697478294373,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.949999988079071,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.121,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.95,
"spliceai_max_prediction": "Pathogenic",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 10,
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"pathogenic_score": 10,
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],
"verdict": "Pathogenic",
"transcript": "NM_001698.3",
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "3-methylglutaconic aciduria type 1,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:2",
"phenotype_combined": "not provided|Inborn genetic diseases|3-methylglutaconic aciduria type 1",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}