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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: 5-62361330-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=62361330&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 62361330,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001098511.3",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.His321Asp",
"transcript": "NM_001098511.3",
"protein_id": "NP_001091981.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 744,
"cds_start": 961,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407818.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098511.3"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.His321Asp",
"transcript": "ENST00000407818.8",
"protein_id": "ENSP00000385000.3",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 744,
"cds_start": 961,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098511.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407818.8"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.His321Asp",
"transcript": "ENST00000401507.7",
"protein_id": "ENSP00000385622.3",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 706,
"cds_start": 961,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401507.7"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.His294Asp",
"transcript": "ENST00000381103.7",
"protein_id": "ENSP00000370493.3",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 679,
"cds_start": 880,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381103.7"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.His321Asp",
"transcript": "ENST00000514082.6",
"protein_id": "ENSP00000423542.2",
"transcript_support_level": 1,
"aa_start": 321,
"aa_end": null,
"aa_length": 519,
"cds_start": 961,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514082.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288643",
"gene_hgnc_id": null,
"hgvs_c": "n.64+54794C>G",
"hgvs_p": null,
"transcript": "ENST00000509663.2",
"protein_id": "ENSP00000502199.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509663.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.His321Asp",
"transcript": "ENST00000908148.1",
"protein_id": "ENSP00000578207.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 766,
"cds_start": 961,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908148.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.His321Asp",
"transcript": "ENST00000908144.1",
"protein_id": "ENSP00000578203.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 728,
"cds_start": 961,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908144.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.His321Asp",
"transcript": "ENST00000908143.1",
"protein_id": "ENSP00000578202.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 727,
"cds_start": 961,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908143.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.904C>G",
"hgvs_p": "p.His302Asp",
"transcript": "ENST00000674632.1",
"protein_id": "ENSP00000502498.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 725,
"cds_start": 904,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674632.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.880C>G",
"hgvs_p": "p.His294Asp",
"transcript": "ENST00000674733.1",
"protein_id": "ENSP00000502097.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 717,
"cds_start": 880,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674733.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.985C>G",
"hgvs_p": "p.His329Asp",
"transcript": "ENST00000908149.1",
"protein_id": "ENSP00000578208.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 714,
"cds_start": 985,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908149.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.904C>G",
"hgvs_p": "p.His302Asp",
"transcript": "ENST00000908145.1",
"protein_id": "ENSP00000578204.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 709,
"cds_start": 904,
"cds_end": null,
"cds_length": 2130,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908145.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.His321Asp",
"transcript": "NM_004520.5",
"protein_id": "NP_004511.2",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 706,
"cds_start": 961,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004520.5"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.961C>G",
"hgvs_p": "p.His321Asp",
"transcript": "ENST00000927779.1",
"protein_id": "ENSP00000597838.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 704,
"cds_start": 961,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927779.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.His316Asp",
"transcript": "ENST00000927780.1",
"protein_id": "ENSP00000597839.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 701,
"cds_start": 946,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927780.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.943C>G",
"hgvs_p": "p.His315Asp",
"transcript": "ENST00000908146.1",
"protein_id": "ENSP00000578205.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 700,
"cds_start": 943,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908146.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.928C>G",
"hgvs_p": "p.His310Asp",
"transcript": "ENST00000908147.1",
"protein_id": "ENSP00000578206.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 695,
"cds_start": 928,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908147.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.922C>G",
"hgvs_p": "p.His308Asp",
"transcript": "ENST00000927778.1",
"protein_id": "ENSP00000597837.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 693,
"cds_start": 922,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927778.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.904C>G",
"hgvs_p": "p.His302Asp",
"transcript": "NM_001243953.2",
"protein_id": "NP_001230882.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 687,
"cds_start": 904,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243953.2"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF2A",
"gene_hgnc_id": 6318,
"hgvs_c": "c.904C>G",
"hgvs_p": "p.His302Asp",
"transcript": "ENST00000676271.1",
"protein_id": "ENSP00000501719.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 687,
"cds_start": 904,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676271.1"
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
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{
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{
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{
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],
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Complex cortical dysplasia with other brain malformations 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}