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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: 8-119557630-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=119557630&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 119557630,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006209.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Arg828Leu",
"transcript": "NM_001040092.3",
"protein_id": "NP_001035181.1",
"transcript_support_level": null,
"aa_start": 828,
"aa_end": null,
"aa_length": 863,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000075322.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040092.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2483G>T",
"hgvs_p": "p.Arg828Leu",
"transcript": "ENST00000075322.11",
"protein_id": "ENSP00000075322.6",
"transcript_support_level": 1,
"aa_start": 828,
"aa_end": null,
"aa_length": 863,
"cds_start": 2483,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040092.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000075322.11"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2639G>T",
"hgvs_p": "p.Arg880Leu",
"transcript": "ENST00000259486.10",
"protein_id": "ENSP00000259486.6",
"transcript_support_level": 1,
"aa_start": 880,
"aa_end": null,
"aa_length": 915,
"cds_start": 2639,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259486.10"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"transcript": "ENST00000522826.5",
"protein_id": "ENSP00000428291.1",
"transcript_support_level": 1,
"aa_start": 853,
"aa_end": null,
"aa_length": 888,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522826.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2714G>T",
"hgvs_p": "p.Arg905Leu",
"transcript": "ENST00000874341.1",
"protein_id": "ENSP00000544400.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 940,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874341.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Arg901Leu",
"transcript": "ENST00000874338.1",
"protein_id": "ENSP00000544397.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 936,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874338.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2639G>T",
"hgvs_p": "p.Arg880Leu",
"transcript": "NM_006209.5",
"protein_id": "NP_006200.3",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 915,
"cds_start": 2639,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006209.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2585G>T",
"hgvs_p": "p.Arg862Leu",
"transcript": "ENST00000874342.1",
"protein_id": "ENSP00000544401.1",
"transcript_support_level": null,
"aa_start": 862,
"aa_end": null,
"aa_length": 897,
"cds_start": 2585,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874342.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2558G>T",
"hgvs_p": "p.Arg853Leu",
"transcript": "NM_001130863.3",
"protein_id": "NP_001124335.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 888,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130863.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2546G>T",
"hgvs_p": "p.Arg849Leu",
"transcript": "NM_001330600.2",
"protein_id": "NP_001317529.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 884,
"cds_start": 2546,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330600.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2546G>T",
"hgvs_p": "p.Arg849Leu",
"transcript": "ENST00000427067.6",
"protein_id": "ENSP00000403315.2",
"transcript_support_level": 5,
"aa_start": 849,
"aa_end": null,
"aa_length": 884,
"cds_start": 2546,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427067.6"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2546G>T",
"hgvs_p": "p.Arg849Leu",
"transcript": "ENST00000874336.1",
"protein_id": "ENSP00000544395.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 884,
"cds_start": 2546,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874336.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2477G>T",
"hgvs_p": "p.Arg826Leu",
"transcript": "ENST00000874337.1",
"protein_id": "ENSP00000544396.1",
"transcript_support_level": null,
"aa_start": 826,
"aa_end": null,
"aa_length": 861,
"cds_start": 2477,
"cds_end": null,
"cds_length": 2586,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874337.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2429G>T",
"hgvs_p": "p.Arg810Leu",
"transcript": "ENST00000874339.1",
"protein_id": "ENSP00000544398.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 845,
"cds_start": 2429,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874339.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2390G>T",
"hgvs_p": "p.Arg797Leu",
"transcript": "ENST00000874340.1",
"protein_id": "ENSP00000544399.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 832,
"cds_start": 2390,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874340.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2327G>T",
"hgvs_p": "p.Arg776Leu",
"transcript": "ENST00000962640.1",
"protein_id": "ENSP00000632699.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 811,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962640.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2123G>T",
"hgvs_p": "p.Arg708Leu",
"transcript": "ENST00000962639.1",
"protein_id": "ENSP00000632698.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 743,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962639.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.1388G>T",
"hgvs_p": "p.Arg463Leu",
"transcript": "ENST00000522167.5",
"protein_id": "ENSP00000429476.1",
"transcript_support_level": 2,
"aa_start": 463,
"aa_end": null,
"aa_length": 498,
"cds_start": 1388,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522167.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2714G>T",
"hgvs_p": "p.Arg905Leu",
"transcript": "XM_006716584.2",
"protein_id": "XP_006716647.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 940,
"cds_start": 2714,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716584.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Arg901Leu",
"transcript": "XM_006716585.2",
"protein_id": "XP_006716648.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 936,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716585.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2702G>T",
"hgvs_p": "p.Arg901Leu",
"transcript": "XM_024447181.2",
"protein_id": "XP_024302949.1",
"transcript_support_level": null,
"aa_start": 901,
"aa_end": null,
"aa_length": 936,
"cds_start": 2702,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447181.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENPP2",
"gene_hgnc_id": 3357,
"hgvs_c": "c.2627G>T",
"hgvs_p": "p.Arg876Leu",
"transcript": "XM_006716587.2",
"protein_id": "XP_006716650.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 911,
"cds_start": 2627,
"cds_end": null,
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}