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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: 2-65071961-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=65071961&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 65071961,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000377990.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "NM_015147.3",
"protein_id": "NP_055962.2",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 757,
"cds_start": 865,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": "ENST00000377990.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000377990.7",
"protein_id": "ENSP00000367229.2",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 757,
"cds_start": 865,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 5803,
"mane_select": "NM_015147.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000260569.4",
"protein_id": "ENSP00000260569.4",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 620,
"cds_start": 865,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 5343,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.581C>G",
"hgvs_p": null,
"transcript": "ENST00000537589.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "NM_001319100.2",
"protein_id": "NP_001306029.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 757,
"cds_start": 865,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 5799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000704486.1",
"protein_id": "ENSP00000515914.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 755,
"cds_start": 865,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 5756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000704570.1",
"protein_id": "ENSP00000515946.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 739,
"cds_start": 865,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 5788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "NM_001410838.1",
"protein_id": "NP_001397767.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 721,
"cds_start": 865,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 2838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000703985.1",
"protein_id": "ENSP00000515602.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 721,
"cds_start": 865,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000704388.1",
"protein_id": "ENSP00000515890.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 721,
"cds_start": 865,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000703983.1",
"protein_id": "ENSP00000515601.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 716,
"cds_start": 865,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 5691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000704450.1",
"protein_id": "ENSP00000515902.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 712,
"cds_start": 865,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 3016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000704479.1",
"protein_id": "ENSP00000515908.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 712,
"cds_start": 865,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 3036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "ENST00000704487.1",
"protein_id": "ENSP00000515915.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 700,
"cds_start": 865,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "c.865C>G",
"hgvs_p": "p.His289Asp",
"transcript": "NM_001319101.2",
"protein_id": "NP_001306030.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 620,
"cds_start": 865,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 5392,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.1233C>G",
"hgvs_p": null,
"transcript": "ENST00000497039.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 2355,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.865C>G",
"hgvs_p": null,
"transcript": "ENST00000703915.1",
"protein_id": "ENSP00000515549.1",
"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": 5691,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.865C>G",
"hgvs_p": null,
"transcript": "ENST00000703921.1",
"protein_id": "ENSP00000515556.1",
"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": 2114,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.865C>G",
"hgvs_p": null,
"transcript": "ENST00000704448.1",
"protein_id": "ENSP00000515900.1",
"transcript_support_level": null,
"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": 2462,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.1041C>G",
"hgvs_p": null,
"transcript": "ENST00000704454.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4323,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.865C>G",
"hgvs_p": null,
"transcript": "ENST00000704456.1",
"protein_id": "ENSP00000515906.1",
"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": 5464,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.865C>G",
"hgvs_p": null,
"transcript": "ENST00000704480.1",
"protein_id": "ENSP00000515909.1",
"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": 5877,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP68",
"gene_hgnc_id": 29076,
"hgvs_c": "n.865C>G",
"hgvs_p": null,
"transcript": "ENST00000704482.1",
"protein_id": "ENSP00000515911.1",
"transcript_support_level": null,
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}
],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_ac": null,
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"pathogenic_score": 2,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000377990.7",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}