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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: 9-76638266-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=76638266&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 76638266,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015225.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8751T>A",
"hgvs_p": "p.Asn2917Lys",
"transcript": "NM_015225.3",
"protein_id": "NP_056040.2",
"transcript_support_level": null,
"aa_start": 2917,
"aa_end": null,
"aa_length": 3088,
"cds_start": 8751,
"cds_end": null,
"cds_length": 9267,
"cdna_start": 8902,
"cdna_end": null,
"cdna_length": 12612,
"mane_select": "ENST00000376718.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8751T>A",
"hgvs_p": "p.Asn2917Lys",
"transcript": "ENST00000376718.8",
"protein_id": "ENSP00000365908.3",
"transcript_support_level": 5,
"aa_start": 2917,
"aa_end": null,
"aa_length": 3088,
"cds_start": 8751,
"cds_end": null,
"cds_length": 9267,
"cdna_start": 8902,
"cdna_end": null,
"cdna_length": 12612,
"mane_select": "NM_015225.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8763T>A",
"hgvs_p": "p.Asn2921Lys",
"transcript": "NM_001308048.2",
"protein_id": "NP_001294977.1",
"transcript_support_level": null,
"aa_start": 2921,
"aa_end": null,
"aa_length": 3063,
"cds_start": 8763,
"cds_end": null,
"cds_length": 9192,
"cdna_start": 8914,
"cdna_end": null,
"cdna_length": 12537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8760T>A",
"hgvs_p": "p.Asn2920Lys",
"transcript": "NM_001308047.2",
"protein_id": "NP_001294976.1",
"transcript_support_level": null,
"aa_start": 2920,
"aa_end": null,
"aa_length": 3062,
"cds_start": 8760,
"cds_end": null,
"cds_length": 9189,
"cdna_start": 8911,
"cdna_end": null,
"cdna_length": 12534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8760T>A",
"hgvs_p": "p.Asn2920Lys",
"transcript": "ENST00000443509.6",
"protein_id": "ENSP00000393843.3",
"transcript_support_level": 5,
"aa_start": 2920,
"aa_end": null,
"aa_length": 3062,
"cds_start": 8760,
"cds_end": null,
"cds_length": 9189,
"cdna_start": 8838,
"cdna_end": null,
"cdna_length": 12356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.7677T>A",
"hgvs_p": "p.Asn2559Lys",
"transcript": "ENST00000428286.5",
"protein_id": "ENSP00000397425.1",
"transcript_support_level": 5,
"aa_start": 2559,
"aa_end": null,
"aa_length": 2730,
"cds_start": 7677,
"cds_end": null,
"cds_length": 8193,
"cdna_start": 8832,
"cdna_end": null,
"cdna_length": 12437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.6723T>A",
"hgvs_p": "p.Asn2241Lys",
"transcript": "ENST00000426088.5",
"protein_id": "ENSP00000389706.1",
"transcript_support_level": 5,
"aa_start": 2241,
"aa_end": null,
"aa_length": 2383,
"cds_start": 6723,
"cds_end": null,
"cds_length": 7152,
"cdna_start": 6724,
"cdna_end": null,
"cdna_length": 7434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.Asn182Lys",
"transcript": "NM_001330680.2",
"protein_id": "NP_001317609.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 353,
"cds_start": 546,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 4312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.Asn182Lys",
"transcript": "ENST00000376717.6",
"protein_id": "ENSP00000365907.2",
"transcript_support_level": 5,
"aa_start": 182,
"aa_end": null,
"aa_length": 353,
"cds_start": 546,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 4308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Asn181Lys",
"transcript": "NM_001308050.2",
"protein_id": "NP_001294979.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 352,
"cds_start": 543,
"cds_end": null,
"cds_length": 1059,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.498T>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "NM_001308049.2",
"protein_id": "NP_001294978.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 337,
"cds_start": 498,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 4454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.546T>A",
"hgvs_p": "p.Asn182Lys",
"transcript": "NM_001308051.2",
"protein_id": "NP_001294980.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 324,
"cds_start": 546,
"cds_end": null,
"cds_length": 975,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 4225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.270T>A",
"hgvs_p": "p.Asn90Lys",
"transcript": "ENST00000424866.1",
"protein_id": "ENSP00000393657.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 260,
"cds_start": 270,
"cds_end": null,
"cds_length": 783,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8763T>A",
"hgvs_p": "p.Asn2921Lys",
"transcript": "XM_006716982.2",
"protein_id": "XP_006717045.1",
"transcript_support_level": null,
"aa_start": 2921,
"aa_end": null,
"aa_length": 3104,
"cds_start": 8763,
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"cdna_start": 8914,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8760T>A",
"hgvs_p": "p.Asn2920Lys",
"transcript": "XM_006716983.2",
"protein_id": "XP_006717046.1",
"transcript_support_level": null,
"aa_start": 2920,
"aa_end": null,
"aa_length": 3103,
"cds_start": 8760,
"cds_end": null,
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"cdna_start": 8911,
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"cdna_length": 12657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8763T>A",
"hgvs_p": "p.Asn2921Lys",
"transcript": "XM_006716984.3",
"protein_id": "XP_006717047.1",
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"aa_start": 2921,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8754T>A",
"hgvs_p": "p.Asn2918Lys",
"transcript": "XM_006716985.2",
"protein_id": "XP_006717048.1",
"transcript_support_level": null,
"aa_start": 2918,
"aa_end": null,
"aa_length": 3101,
"cds_start": 8754,
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"cds_length": 9306,
"cdna_start": 8905,
"cdna_end": null,
"cdna_length": 12651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8763T>A",
"hgvs_p": "p.Asn2921Lys",
"transcript": "XM_047422876.1",
"protein_id": "XP_047278832.1",
"transcript_support_level": null,
"aa_start": 2921,
"aa_end": null,
"aa_length": 3101,
"cds_start": 8763,
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"cdna_start": 8914,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8751T>A",
"hgvs_p": "p.Asn2917Lys",
"transcript": "XM_006716986.2",
"protein_id": "XP_006717049.1",
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"aa_end": null,
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"cdna_start": 8902,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8763T>A",
"hgvs_p": "p.Asn2921Lys",
"transcript": "XM_005251745.2",
"protein_id": "XP_005251802.1",
"transcript_support_level": null,
"aa_start": 2921,
"aa_end": null,
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"cds_start": 8763,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8763T>A",
"hgvs_p": "p.Asn2921Lys",
"transcript": "XM_005251746.2",
"protein_id": "XP_005251803.1",
"transcript_support_level": null,
"aa_start": 2921,
"aa_end": null,
"aa_length": 3091,
"cds_start": 8763,
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"cdna_start": 8914,
"cdna_end": null,
"cdna_length": 12621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRUNE2",
"gene_hgnc_id": 25209,
"hgvs_c": "c.8760T>A",
"hgvs_p": "p.Asn2920Lys",
"transcript": "XM_005251748.2",
"protein_id": "XP_005251805.1",
"transcript_support_level": null,
"aa_start": 2920,
"aa_end": null,
"aa_length": 3090,
"cds_start": 8760,
"cds_end": null,
"cds_length": 9273,
"cdna_start": 8911,
"cdna_end": null,
"cdna_length": 12618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}