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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: 3-50366604-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50366604&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50366604,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000266039.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2611G>T",
"hgvs_p": "p.Glu871*",
"transcript": "NM_006030.4",
"protein_id": "NP_006021.2",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2611,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": "ENST00000424201.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2611G>T",
"hgvs_p": "p.Glu871*",
"transcript": "ENST00000424201.7",
"protein_id": "ENSP00000390329.2",
"transcript_support_level": 1,
"aa_start": 871,
"aa_end": null,
"aa_length": 1143,
"cds_start": 2611,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": "NM_006030.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2635G>T",
"hgvs_p": "p.Glu879*",
"transcript": "ENST00000423994.6",
"protein_id": "ENSP00000407393.2",
"transcript_support_level": 5,
"aa_start": 879,
"aa_end": null,
"aa_length": 1153,
"cds_start": 2635,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 2635,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2632G>T",
"hgvs_p": "p.Glu878*",
"transcript": "ENST00000479441.1",
"protein_id": "ENSP00000418081.1",
"transcript_support_level": 1,
"aa_start": 878,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 2632,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2611G>T",
"hgvs_p": "p.Glu871*",
"transcript": "ENST00000266039.7",
"protein_id": "ENSP00000266039.3",
"transcript_support_level": 1,
"aa_start": 871,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2611,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 2785,
"cdna_end": null,
"cdna_length": 5476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2404G>T",
"hgvs_p": "p.Glu802*",
"transcript": "ENST00000360963.7",
"protein_id": "ENSP00000354228.3",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2404,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272104",
"gene_hgnc_id": null,
"hgvs_c": "c.*9+273C>A",
"hgvs_p": null,
"transcript": "ENST00000606589.1",
"protein_id": "ENSP00000476225.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 50,
"cds_start": -4,
"cds_end": null,
"cds_length": 153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2632G>T",
"hgvs_p": "p.Glu878*",
"transcript": "NM_001174051.3",
"protein_id": "NP_001167522.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 1150,
"cds_start": 2632,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 2843,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2611G>T",
"hgvs_p": "p.Glu871*",
"transcript": "NM_001005505.3",
"protein_id": "NP_001005505.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1145,
"cds_start": 2611,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 2822,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2614G>T",
"hgvs_p": "p.Glu872*",
"transcript": "NM_001410768.1",
"protein_id": "NP_001397697.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1144,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 2825,
"cdna_end": null,
"cdna_length": 5699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2614G>T",
"hgvs_p": "p.Glu872*",
"transcript": "ENST00000429770.5",
"protein_id": "ENSP00000404631.1",
"transcript_support_level": 5,
"aa_start": 872,
"aa_end": null,
"aa_length": 1144,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 2619,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2404G>T",
"hgvs_p": "p.Glu802*",
"transcript": "NM_001291101.1",
"protein_id": "NP_001278030.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 1076,
"cds_start": 2404,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 2581,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.2635G>T",
"hgvs_p": "p.Glu879*",
"transcript": "XM_011534243.3",
"protein_id": "XP_011532545.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2635,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 2846,
"cdna_end": null,
"cdna_length": 5720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271858",
"gene_hgnc_id": null,
"hgvs_c": "n.540+273C>A",
"hgvs_p": null,
"transcript": "ENST00000606259.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271858",
"gene_hgnc_id": null,
"hgvs_c": "n.508+273C>A",
"hgvs_p": null,
"transcript": "ENST00000606665.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271858",
"gene_hgnc_id": null,
"hgvs_c": "n.109+273C>A",
"hgvs_p": null,
"transcript": "ENST00000607088.5",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271858",
"gene_hgnc_id": null,
"hgvs_c": "n.602+273C>A",
"hgvs_p": null,
"transcript": "ENST00000607121.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271858",
"gene_hgnc_id": null,
"hgvs_c": "n.478+273C>A",
"hgvs_p": null,
"transcript": "ENST00000607583.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LOC127898564",
"gene_hgnc_id": null,
"hgvs_c": "n.310+273C>A",
"hgvs_p": null,
"transcript": "NR_111912.2",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC101928965",
"gene_hgnc_id": null,
"hgvs_c": "n.530+273C>A",
"hgvs_p": null,
"transcript": "NR_111913.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC101928965",
"gene_hgnc_id": null,
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"hgvs_p": null,
"transcript": "NR_111914.2",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC101928965",
"gene_hgnc_id": null,
"hgvs_c": "n.613+273C>A",
"hgvs_p": null,
"transcript": "NR_183061.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC101928965",
"gene_hgnc_id": null,
"hgvs_c": "n.613+273C>A",
"hgvs_p": null,
"transcript": "NR_183062.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1100,
"mane_select": null,
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{
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"verdict": "Likely_pathogenic",
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{
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{
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{
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],
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}
],
"message": null
}