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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: 17-7190812-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7190812&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 7190812,
"ref": "T",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000399506.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.2071A>G",
"hgvs_p": "p.Ile691Val",
"transcript": "NM_001321075.3",
"protein_id": "NP_001308004.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 724,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": "ENST00000399506.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.2071A>G",
"hgvs_p": "p.Ile691Val",
"transcript": "ENST00000399506.9",
"protein_id": "ENSP00000382425.2",
"transcript_support_level": 2,
"aa_start": 691,
"aa_end": null,
"aa_length": 724,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2551,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": "NM_001321075.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"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": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.2200A>G",
"hgvs_p": "p.Ile734Val",
"transcript": "ENST00000648172.9",
"protein_id": "ENSP00000497806.3",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 767,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.2191A>G",
"hgvs_p": "p.Ile731Val",
"transcript": "ENST00000399510.8",
"protein_id": "ENSP00000382428.3",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 764,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 3178,
"cdna_end": null,
"cdna_length": 4100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.2170A>G",
"hgvs_p": "p.Ile724Val",
"transcript": "ENST00000648896.1",
"protein_id": "ENSP00000497546.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 757,
"cds_start": 2170,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2252,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.1891A>G",
"hgvs_p": "p.Ile631Val",
"transcript": "ENST00000649520.1",
"protein_id": "ENSP00000497647.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 664,
"cds_start": 1891,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 3077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "n.972A>G",
"hgvs_p": null,
"transcript": "ENST00000489885.1",
"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": 1894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "n.*86A>G",
"hgvs_p": null,
"transcript": "ENST00000491753.2",
"protein_id": "ENSP00000467897.2",
"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": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "n.*86A>G",
"hgvs_p": null,
"transcript": "ENST00000491753.2",
"protein_id": "ENSP00000467897.2",
"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": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.2200A>G",
"hgvs_p": "p.Ile734Val",
"transcript": "NM_001365.5",
"protein_id": "NP_001356.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 767,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.2191A>G",
"hgvs_p": "p.Ile731Val",
"transcript": "NM_001321074.1",
"protein_id": "NP_001308003.1",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 764,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 3392,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.2062A>G",
"hgvs_p": "p.Ile688Val",
"transcript": "NM_001128827.4",
"protein_id": "NP_001122299.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 721,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 6167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.2062A>G",
"hgvs_p": "p.Ile688Val",
"transcript": "ENST00000302955.11",
"protein_id": "ENSP00000307471.6",
"transcript_support_level": 5,
"aa_start": 688,
"aa_end": null,
"aa_length": 721,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 2524,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Ile664Val",
"transcript": "NM_001369566.3",
"protein_id": "NP_001356495.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 697,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2307,
"cdna_end": null,
"cdna_length": 5932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.1990A>G",
"hgvs_p": "p.Ile664Val",
"transcript": "ENST00000649971.1",
"protein_id": "ENSP00000497011.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 697,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.1891A>G",
"hgvs_p": "p.Ile631Val",
"transcript": "NM_001321076.3",
"protein_id": "NP_001308005.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 664,
"cds_start": 1891,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2217,
"cdna_end": null,
"cdna_length": 5842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.1891A>G",
"hgvs_p": "p.Ile631Val",
"transcript": "NM_001321077.3",
"protein_id": "NP_001308006.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 664,
"cds_start": 1891,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 5833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "c.1891A>G",
"hgvs_p": "p.Ile631Val",
"transcript": "ENST00000649186.1",
"protein_id": "ENSP00000497879.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 664,
"cds_start": 1891,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 2419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "n.2649A>G",
"hgvs_p": null,
"transcript": "ENST00000648103.2",
"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": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "n.2106A>G",
"hgvs_p": null,
"transcript": "ENST00000648707.1",
"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": 2357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "n.413A>G",
"hgvs_p": null,
"transcript": "ENST00000649514.1",
"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": 613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"hgvs_c": "n.3291A>G",
"hgvs_p": null,
"transcript": "NR_135527.1",
"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": 4213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DLG4",
"gene_hgnc_id": 2903,
"dbsnp": "rs985891095",
"frequency_reference_population": 0.000003720252,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000136882,
"gnomad_genomes_af": 0.0000263713,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1766631305217743,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.0613,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.01,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000399506.9",
"gene_symbol": "DLG4",
"hgnc_id": 2903,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2071A>G",
"hgvs_p": "p.Ile691Val"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}