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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: 16-89305206-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89305206&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89305206,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000301030.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_013275.6",
"protein_id": "NP_037407.4",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 2663,
"cds_start": 226,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": "ENST00000301030.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000301030.10",
"protein_id": "ENSP00000301030.4",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 2663,
"cds_start": 226,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 9301,
"mane_select": "NM_013275.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000378330.7",
"protein_id": "ENSP00000367581.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 2663,
"cds_start": 226,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_001256182.2",
"protein_id": "NP_001243111.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 2663,
"cds_start": 226,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 9372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_001256183.2",
"protein_id": "NP_001243112.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 2663,
"cds_start": 226,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 9298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000642600.2",
"protein_id": "ENSP00000495226.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 2663,
"cds_start": 226,
"cds_end": null,
"cds_length": 7992,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 9227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Ser",
"transcript": "ENST00000642443.1",
"protein_id": "ENSP00000493644.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 943,
"cds_start": 226,
"cds_end": null,
"cds_length": 2834,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000644285.1",
"protein_id": "ENSP00000496476.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 421,
"cds_start": 226,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000646975.1",
"protein_id": "ENSP00000495608.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 272,
"cds_start": 226,
"cds_end": null,
"cds_length": 819,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 1179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000642333.1",
"protein_id": "ENSP00000496651.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 267,
"cds_start": 226,
"cds_end": null,
"cds_length": 804,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 2044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000642695.1",
"protein_id": "ENSP00000495449.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 267,
"cds_start": 226,
"cds_end": null,
"cds_length": 804,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000644784.1",
"protein_id": "ENSP00000496419.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 267,
"cds_start": 226,
"cds_end": null,
"cds_length": 804,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000646838.1",
"protein_id": "ENSP00000495124.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 267,
"cds_start": 226,
"cds_end": null,
"cds_length": 804,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 2726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Arg",
"transcript": "ENST00000563291.1",
"protein_id": "ENSP00000455008.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 124,
"cds_start": 226,
"cds_end": null,
"cds_length": 375,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Arg",
"transcript": "ENST00000566858.5",
"protein_id": "ENSP00000495743.1",
"transcript_support_level": 4,
"aa_start": 76,
"aa_end": null,
"aa_length": 124,
"cds_start": 226,
"cds_end": null,
"cds_length": 375,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Arg",
"transcript": "ENST00000567736.6",
"protein_id": "ENSP00000496367.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 124,
"cds_start": 226,
"cds_end": null,
"cds_length": 375,
"cdna_start": 663,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Gly76Arg",
"transcript": "ENST00000647238.1",
"protein_id": "ENSP00000496656.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 124,
"cds_start": 226,
"cds_end": null,
"cds_length": 375,
"cdna_start": 370,
"cdna_end": null,
"cdna_length": 1097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.148G>A",
"hgvs_p": "p.Glu50Lys",
"transcript": "ENST00000646166.1",
"protein_id": "ENSP00000493980.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 97,
"cds_start": 148,
"cds_end": null,
"cds_length": 294,
"cdna_start": 344,
"cdna_end": null,
"cdna_length": 490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000644045.1",
"protein_id": "ENSP00000496636.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 88,
"cds_start": 226,
"cds_end": null,
"cds_length": 267,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Gln9Gln",
"transcript": "ENST00000647213.1",
"protein_id": "ENSP00000495399.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 31,
"cds_start": 27,
"cds_end": null,
"cds_length": 98,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "n.226G>A",
"hgvs_p": null,
"transcript": "ENST00000330736.10",
"protein_id": "ENSP00000330815.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKRD11",
"gene_hgnc_id": 21316,
"hgvs_c": "n.*391G>A",
"hgvs_p": null,
"transcript": "ENST00000378332.7",
"protein_id": "ENSP00000367583.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Inborn genetic diseases|KBG syndrome",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}