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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: 13-100268762-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=100268762&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 100268762,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000282.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "NM_000282.4",
"protein_id": "NP_000273.2",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 728,
"cds_start": 893,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376285.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000282.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "ENST00000376285.6",
"protein_id": "ENSP00000365462.1",
"transcript_support_level": 1,
"aa_start": 298,
"aa_end": null,
"aa_length": 728,
"cds_start": 893,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000282.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376285.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg",
"transcript": "ENST00000881637.1",
"protein_id": "ENSP00000551696.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 769,
"cds_start": 1016,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881637.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.998A>G",
"hgvs_p": "p.Lys333Arg",
"transcript": "ENST00000881640.1",
"protein_id": "ENSP00000551699.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 763,
"cds_start": 998,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881640.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "ENST00000956821.1",
"protein_id": "ENSP00000626880.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 762,
"cds_start": 893,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956821.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.983A>G",
"hgvs_p": "p.Lys328Arg",
"transcript": "ENST00000881647.1",
"protein_id": "ENSP00000551706.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 758,
"cds_start": 983,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881647.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.968A>G",
"hgvs_p": "p.Lys323Arg",
"transcript": "ENST00000881631.1",
"protein_id": "ENSP00000551690.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 753,
"cds_start": 968,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881631.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.1016A>G",
"hgvs_p": "p.Lys339Arg",
"transcript": "ENST00000881644.1",
"protein_id": "ENSP00000551703.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 738,
"cds_start": 1016,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881644.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "ENST00000940854.1",
"protein_id": "ENSP00000610913.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 726,
"cds_start": 893,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940854.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.881A>G",
"hgvs_p": "p.Lys294Arg",
"transcript": "ENST00000881635.1",
"protein_id": "ENSP00000551694.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 724,
"cds_start": 881,
"cds_end": null,
"cds_length": 2175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881635.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "NM_001352605.2",
"protein_id": "NP_001339534.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 710,
"cds_start": 893,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352605.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "ENST00000881625.1",
"protein_id": "ENSP00000551684.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 710,
"cds_start": 893,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881625.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.839A>G",
"hgvs_p": "p.Lys280Arg",
"transcript": "ENST00000956823.1",
"protein_id": "ENSP00000626882.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 710,
"cds_start": 839,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956823.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "ENST00000956827.1",
"protein_id": "ENSP00000626886.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 705,
"cds_start": 893,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956827.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Lys272Arg",
"transcript": "NM_001127692.3",
"protein_id": "NP_001121164.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 702,
"cds_start": 815,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127692.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.815A>G",
"hgvs_p": "p.Lys272Arg",
"transcript": "ENST00000376286.8",
"protein_id": "ENSP00000365463.4",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 702,
"cds_start": 815,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376286.8"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "ENST00000881634.1",
"protein_id": "ENSP00000551693.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 697,
"cds_start": 893,
"cds_end": null,
"cds_length": 2094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881634.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "ENST00000881627.1",
"protein_id": "ENSP00000551686.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 695,
"cds_start": 893,
"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": "ENST00000881627.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "ENST00000881645.1",
"protein_id": "ENSP00000551704.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 691,
"cds_start": 893,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881645.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Lys259Arg",
"transcript": "ENST00000881638.1",
"protein_id": "ENSP00000551697.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 689,
"cds_start": 776,
"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": "ENST00000881638.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.893A>G",
"hgvs_p": "p.Lys298Arg",
"transcript": "ENST00000956825.1",
"protein_id": "ENSP00000626884.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 689,
"cds_start": 893,
"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": "ENST00000956825.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCCA",
"gene_hgnc_id": 8653,
"hgvs_c": "c.761A>G",
"hgvs_p": "p.Lys254Arg",
"transcript": "ENST00000881626.1",
"protein_id": "ENSP00000551685.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 684,
"cds_start": 761,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not provided|Propionic acidemia",
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}
],
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}