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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: 9-91214377-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=91214377&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 91214377,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001698.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.991A>T",
"hgvs_p": "p.Lys331*",
"transcript": "NM_001698.3",
"protein_id": "NP_001689.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 339,
"cds_start": 991,
"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": "K",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.991A>T",
"hgvs_p": "p.Lys331*",
"transcript": "ENST00000375731.9",
"protein_id": "ENSP00000364883.5",
"transcript_support_level": 1,
"aa_start": 331,
"aa_end": null,
"aa_length": 339,
"cds_start": 991,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.904A>T",
"hgvs_p": "p.Lys302*",
"transcript": "ENST00000303617.5",
"protein_id": "ENSP00000307334.5",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 310,
"cds_start": 904,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.1021A>T",
"hgvs_p": "p.Lys341*",
"transcript": "ENST00000895926.1",
"protein_id": "ENSP00000565985.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 349,
"cds_start": 1021,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.940A>T",
"hgvs_p": "p.Lys314*",
"transcript": "ENST00000895928.1",
"protein_id": "ENSP00000565987.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 322,
"cds_start": 940,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.934A>T",
"hgvs_p": "p.Lys312*",
"transcript": "ENST00000968996.1",
"protein_id": "ENSP00000639055.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 320,
"cds_start": 934,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.904A>T",
"hgvs_p": "p.Lys302*",
"transcript": "NM_001306190.2",
"protein_id": "NP_001293119.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 310,
"cds_start": 904,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.898A>T",
"hgvs_p": "p.Lys300*",
"transcript": "ENST00000895923.1",
"protein_id": "ENSP00000565982.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 308,
"cds_start": 898,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.892A>T",
"hgvs_p": "p.Lys298*",
"transcript": "ENST00000895919.1",
"protein_id": "ENSP00000565978.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 306,
"cds_start": 892,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.841A>T",
"hgvs_p": "p.Lys281*",
"transcript": "ENST00000895922.1",
"protein_id": "ENSP00000565981.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 289,
"cds_start": 841,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.835A>T",
"hgvs_p": "p.Lys279*",
"transcript": "ENST00000895920.1",
"protein_id": "ENSP00000565979.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 287,
"cds_start": 835,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.805A>T",
"hgvs_p": "p.Lys269*",
"transcript": "ENST00000895927.1",
"protein_id": "ENSP00000565986.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 277,
"cds_start": 805,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.754A>T",
"hgvs_p": "p.Lys252*",
"transcript": "ENST00000895921.1",
"protein_id": "ENSP00000565980.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 260,
"cds_start": 754,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.748A>T",
"hgvs_p": "p.Lys250*",
"transcript": "ENST00000895924.1",
"protein_id": "ENSP00000565983.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 258,
"cds_start": 748,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.664A>T",
"hgvs_p": "p.Lys222*",
"transcript": "NM_001351431.2",
"protein_id": "NP_001338360.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 230,
"cds_start": 664,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.664A>T",
"hgvs_p": "p.Lys222*",
"transcript": "NM_001351432.2",
"protein_id": "NP_001338361.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 230,
"cds_start": 664,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.655A>T",
"hgvs_p": "p.Lys219*",
"transcript": "ENST00000968997.1",
"protein_id": "ENSP00000639056.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 227,
"cds_start": 655,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.616A>T",
"hgvs_p": "p.Lys206*",
"transcript": "NM_001351433.2",
"protein_id": "NP_001338362.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 214,
"cds_start": 616,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.598A>T",
"hgvs_p": "p.Lys200*",
"transcript": "ENST00000895925.1",
"protein_id": "ENSP00000565984.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 208,
"cds_start": 598,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.499A>T",
"hgvs_p": "p.Lys167*",
"transcript": "ENST00000968995.1",
"protein_id": "ENSP00000639054.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 175,
"cds_start": 499,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.1021A>T",
"hgvs_p": "p.Lys341*",
"transcript": "XM_005252066.4",
"protein_id": "XP_005252123.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 349,
"cds_start": 1021,
"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": "K",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUH",
"gene_hgnc_id": 890,
"hgvs_c": "c.973A>T",
"hgvs_p": "p.Lys325*",
"transcript": "XM_005252067.5",
"protein_id": "XP_005252124.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 333,
"cds_start": 973,
"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": "K",
"aa_alt": "*",
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{
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{
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{
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{
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{
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{
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],
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{
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],
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{
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],
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],
"gene_symbol": "AUH",
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"dbsnp": "rs387906757",
"frequency_reference_population": 0.000021111036,
"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 7,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.934,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001698.3",
"gene_symbol": "AUH",
"hgnc_id": 890,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
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{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000815380.1",
"gene_symbol": "ENSG00000306114",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.150-3388T>A",
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}
],
"clinvar_disease": "3-methylglutaconic aciduria type 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "3-methylglutaconic aciduria type 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}