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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: 10-114436372-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114436372&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114436372,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000533213.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.2225G>A",
"hgvs_p": "p.Arg742His",
"transcript": "NM_002313.7",
"protein_id": "NP_002304.3",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 778,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": "ENST00000533213.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.2225G>A",
"hgvs_p": "p.Arg742His",
"transcript": "ENST00000533213.7",
"protein_id": "ENSP00000433629.3",
"transcript_support_level": 5,
"aa_start": 742,
"aa_end": null,
"aa_length": 778,
"cds_start": 2225,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 7560,
"mane_select": "NM_002313.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.2393G>A",
"hgvs_p": "p.Arg798His",
"transcript": "ENST00000649363.1",
"protein_id": "ENSP00000497150.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 834,
"cds_start": 2393,
"cds_end": null,
"cds_length": 2505,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 2670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.2135G>A",
"hgvs_p": "p.Arg712His",
"transcript": "NM_001322882.2",
"protein_id": "NP_001309811.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 748,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 8047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.2135G>A",
"hgvs_p": "p.Arg712His",
"transcript": "ENST00000369256.6",
"protein_id": "ENSP00000358260.3",
"transcript_support_level": 5,
"aa_start": 712,
"aa_end": null,
"aa_length": 748,
"cds_start": 2135,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.2045G>A",
"hgvs_p": "p.Arg682His",
"transcript": "NM_001003407.2",
"protein_id": "NP_001003407.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 718,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2135,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.2045G>A",
"hgvs_p": "p.Arg682His",
"transcript": "ENST00000392955.8",
"protein_id": "ENSP00000376682.4",
"transcript_support_level": 5,
"aa_start": 682,
"aa_end": null,
"aa_length": 718,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 7411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1940G>A",
"hgvs_p": "p.Arg647His",
"transcript": "NM_001322883.2",
"protein_id": "NP_001309812.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 683,
"cds_start": 1940,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 7290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1895G>A",
"hgvs_p": "p.Arg632His",
"transcript": "NM_001322884.3",
"protein_id": "NP_001309813.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 668,
"cds_start": 1895,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 7386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1889G>A",
"hgvs_p": "p.Arg630His",
"transcript": "NM_001322885.3",
"protein_id": "NP_001309814.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 666,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Arg619His",
"transcript": "NM_001352440.1",
"protein_id": "NP_001339369.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 655,
"cds_start": 1856,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2336,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1856G>A",
"hgvs_p": "p.Arg619His",
"transcript": "ENST00000651023.2",
"protein_id": "ENSP00000499023.2",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 655,
"cds_start": 1856,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1853G>A",
"hgvs_p": "p.Arg618His",
"transcript": "NM_001322886.3",
"protein_id": "NP_001309815.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 654,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 7344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1799G>A",
"hgvs_p": "p.Arg600His",
"transcript": "NM_001322887.2",
"protein_id": "NP_001309816.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 636,
"cds_start": 1799,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1889,
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"cdna_length": 7149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584His",
"transcript": "NM_001352441.1",
"protein_id": "NP_001339370.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 620,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 2231,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584His",
"transcript": "ENST00000707119.1",
"protein_id": "ENSP00000516747.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 620,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1878,
"cdna_end": null,
"cdna_length": 7125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Arg555His",
"transcript": "NM_001352442.2",
"protein_id": "NP_001339371.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 591,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 7216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1283G>A",
"hgvs_p": "p.Arg428His",
"transcript": "NM_001352443.2",
"protein_id": "NP_001339372.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 464,
"cds_start": 1283,
"cds_end": null,
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"cdna_start": 1591,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "NM_001322888.2",
"protein_id": "NP_001309817.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 455,
"cds_start": 1256,
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"cdna_start": 1564,
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"cdna_length": 6824,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "NM_006720.4",
"protein_id": "NP_006711.3",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
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"cds_start": 1256,
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"cdna_start": 1564,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1256G>A",
"hgvs_p": "p.Arg419His",
"transcript": "ENST00000392952.7",
"protein_id": "ENSP00000376679.3",
"transcript_support_level": 5,
"aa_start": 419,
"aa_end": null,
"aa_length": 455,
"cds_start": 1256,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 6841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABLIM1",
"gene_hgnc_id": 78,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407His",
"transcript": "NM_001322889.2",
"protein_id": "NP_001309818.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 443,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 6809,
"mane_select": null,
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}