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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: 17-769898-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=769898&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 769898,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001389725.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Asp268Asn",
"transcript": "NM_016080.4",
"protein_id": "NP_057164.3",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 298,
"cds_start": 802,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301329.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016080.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Asp268Asn",
"transcript": "ENST00000301329.11",
"protein_id": "ENSP00000301329.6",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 298,
"cds_start": 802,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016080.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301329.11"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Asp283Asn",
"transcript": "ENST00000301328.9",
"protein_id": "ENSP00000301328.5",
"transcript_support_level": 1,
"aa_start": 283,
"aa_end": null,
"aa_length": 313,
"cds_start": 847,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301328.9"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Asp334Asn",
"transcript": "NM_001389725.1",
"protein_id": "NP_001376654.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 364,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389725.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Asp305Asn",
"transcript": "NM_001389726.1",
"protein_id": "NP_001376655.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 335,
"cds_start": 913,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389726.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Asp305Asn",
"transcript": "ENST00000891260.1",
"protein_id": "ENSP00000561319.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 335,
"cds_start": 913,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891260.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Asp268Asn",
"transcript": "NM_001389727.1",
"protein_id": "NP_001376656.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 326,
"cds_start": 802,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389727.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Asp283Asn",
"transcript": "NM_001366247.2",
"protein_id": "NP_001353176.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 313,
"cds_start": 847,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366247.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.796G>A",
"hgvs_p": "p.Asp266Asn",
"transcript": "ENST00000940416.1",
"protein_id": "ENSP00000610475.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 296,
"cds_start": 796,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940416.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"transcript": "ENST00000940420.1",
"protein_id": "ENSP00000610479.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 293,
"cds_start": 787,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940420.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.787G>A",
"hgvs_p": "p.Asp263Asn",
"transcript": "ENST00000956992.1",
"protein_id": "ENSP00000627051.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 293,
"cds_start": 787,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956992.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Asp259Asn",
"transcript": "NM_001366249.2",
"protein_id": "NP_001353178.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 289,
"cds_start": 775,
"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": "NM_001366249.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Asp259Asn",
"transcript": "NM_001366250.2",
"protein_id": "NP_001353179.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 289,
"cds_start": 775,
"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": "NM_001366250.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Asp259Asn",
"transcript": "NM_001389728.1",
"protein_id": "NP_001376657.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 289,
"cds_start": 775,
"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": "NM_001389728.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Asp259Asn",
"transcript": "NM_001389729.1",
"protein_id": "NP_001376658.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 289,
"cds_start": 775,
"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": "NM_001389729.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.775G>A",
"hgvs_p": "p.Asp259Asn",
"transcript": "NM_001389730.1",
"protein_id": "NP_001376659.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 289,
"cds_start": 775,
"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": "NM_001389730.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Asp255Asn",
"transcript": "NM_001389731.1",
"protein_id": "NP_001376660.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 285,
"cds_start": 763,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389731.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Asp250Asn",
"transcript": "NM_001389732.1",
"protein_id": "NP_001376661.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 280,
"cds_start": 748,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389732.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Asp250Asn",
"transcript": "ENST00000940417.1",
"protein_id": "ENSP00000610476.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 280,
"cds_start": 748,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940417.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Asp249Asn",
"transcript": "NM_001389733.1",
"protein_id": "NP_001376662.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 279,
"cds_start": 745,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389733.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Asp239Asn",
"transcript": "NM_001389734.1",
"protein_id": "NP_001376663.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 269,
"cds_start": 715,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001389734.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "GLOD4",
"gene_hgnc_id": 14111,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Asp230Asn",
"transcript": "NM_001389735.1",
"protein_id": "NP_001376664.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 260,
"cds_start": 688,
"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": "NM_001389735.1"
},
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"clinvar_review_status": "",
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}
],
"message": null
}