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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: 6-43041036-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43041036&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43041036,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_014780.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3685C>T",
"hgvs_p": "p.Gln1229*",
"transcript": "NM_014780.5",
"protein_id": "NP_055595.2",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3685,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": "ENST00000265348.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3685C>T",
"hgvs_p": "p.Gln1229*",
"transcript": "ENST00000265348.9",
"protein_id": "ENSP00000265348.4",
"transcript_support_level": 1,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3685,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 5406,
"mane_select": "NM_014780.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Gln1261*",
"transcript": "NM_001168370.2",
"protein_id": "NP_001161842.2",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3781,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 3930,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Gln1261*",
"transcript": "NM_001374872.1",
"protein_id": "NP_001361801.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3781,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 4019,
"cdna_end": null,
"cdna_length": 5502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Gln1261*",
"transcript": "ENST00000674100.1",
"protein_id": "ENSP00000501292.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3781,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 4111,
"cdna_end": null,
"cdna_length": 5549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Gln1261*",
"transcript": "ENST00000674134.1",
"protein_id": "ENSP00000501068.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1730,
"cds_start": 3781,
"cds_end": null,
"cds_length": 5193,
"cdna_start": 3969,
"cdna_end": null,
"cdna_length": 5427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3685C>T",
"hgvs_p": "p.Gln1229*",
"transcript": "NM_001374873.1",
"protein_id": "NP_001361802.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1702,
"cds_start": 3685,
"cds_end": null,
"cds_length": 5109,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3685C>T",
"hgvs_p": "p.Gln1229*",
"transcript": "ENST00000690231.1",
"protein_id": "ENSP00000508461.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3685,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 3885,
"cdna_end": null,
"cdna_length": 5354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3682C>T",
"hgvs_p": "p.Gln1228*",
"transcript": "NM_001374874.1",
"protein_id": "NP_001361803.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1697,
"cds_start": 3682,
"cds_end": null,
"cds_length": 5094,
"cdna_start": 3920,
"cdna_end": null,
"cdna_length": 5403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3808C>T",
"hgvs_p": "p.Gln1270*",
"transcript": "XM_017011533.2",
"protein_id": "XP_016867022.2",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1743,
"cds_start": 3808,
"cds_end": null,
"cds_length": 5232,
"cdna_start": 3957,
"cdna_end": null,
"cdna_length": 5452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3808C>T",
"hgvs_p": "p.Gln1270*",
"transcript": "XM_017011534.2",
"protein_id": "XP_016867023.2",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1739,
"cds_start": 3808,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 3957,
"cdna_end": null,
"cdna_length": 5440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3781C>T",
"hgvs_p": "p.Gln1261*",
"transcript": "XM_011515019.3",
"protein_id": "XP_011513321.2",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1734,
"cds_start": 3781,
"cds_end": null,
"cds_length": 5205,
"cdna_start": 3930,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3712C>T",
"hgvs_p": "p.Gln1238*",
"transcript": "XM_017011535.2",
"protein_id": "XP_016867024.2",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1711,
"cds_start": 3712,
"cds_end": null,
"cds_length": 5136,
"cdna_start": 3861,
"cdna_end": null,
"cdna_length": 5356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3712C>T",
"hgvs_p": "p.Gln1238*",
"transcript": "XM_047419600.1",
"protein_id": "XP_047275556.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1707,
"cds_start": 3712,
"cds_end": null,
"cds_length": 5124,
"cdna_start": 3861,
"cdna_end": null,
"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3685C>T",
"hgvs_p": "p.Gln1229*",
"transcript": "XM_011515020.3",
"protein_id": "XP_011513322.2",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1702,
"cds_start": 3685,
"cds_end": null,
"cds_length": 5109,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.3685C>T",
"hgvs_p": "p.Gln1229*",
"transcript": "XM_005249503.4",
"protein_id": "XP_005249560.2",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1698,
"cds_start": 3685,
"cds_end": null,
"cds_length": 5097,
"cdna_start": 3834,
"cdna_end": null,
"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Gln516*",
"transcript": "XM_011515021.2",
"protein_id": "XP_011513323.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 989,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "c.1546C>T",
"hgvs_p": "p.Gln516*",
"transcript": "XM_047419601.1",
"protein_id": "XP_047275557.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 985,
"cds_start": 1546,
"cds_end": null,
"cds_length": 2958,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLC4",
"gene_hgnc_id": 21624,
"hgvs_c": "n.-1092G>A",
"hgvs_p": null,
"transcript": "ENST00000467906.5",
"protein_id": "ENSP00000418759.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.1756C>T",
"hgvs_p": null,
"transcript": "ENST00000478630.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.1555C>T",
"hgvs_p": null,
"transcript": "ENST00000673725.1",
"protein_id": "ENSP00000500980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
"hgvs_c": "n.4524C>T",
"hgvs_p": null,
"transcript": "ENST00000673753.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CUL7",
"gene_hgnc_id": 21024,
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{
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{
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"PP5"
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"verdict": "Likely_pathogenic",
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{
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],
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"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "3M syndrome 1",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}