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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: 3-197051604-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=197051604&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 197051604,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004087.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Glu850Lys",
"transcript": "NM_001366207.1",
"protein_id": "NP_001353136.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 893,
"cds_start": 2548,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000667157.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366207.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Glu850Lys",
"transcript": "ENST00000667157.1",
"protein_id": "ENSP00000499414.1",
"transcript_support_level": null,
"aa_start": 850,
"aa_end": null,
"aa_length": 893,
"cds_start": 2548,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366207.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000667157.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Glu883Lys",
"transcript": "ENST00000346964.6",
"protein_id": "ENSP00000345731.2",
"transcript_support_level": 1,
"aa_start": 883,
"aa_end": null,
"aa_length": 926,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346964.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2581G>A",
"hgvs_p": "p.Glu861Lys",
"transcript": "ENST00000419354.5",
"protein_id": "ENSP00000407531.1",
"transcript_support_level": 1,
"aa_start": 861,
"aa_end": null,
"aa_length": 904,
"cds_start": 2581,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419354.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2581G>A",
"hgvs_p": "p.Glu861Lys",
"transcript": "ENST00000448528.6",
"protein_id": "ENSP00000391732.2",
"transcript_support_level": 1,
"aa_start": 861,
"aa_end": null,
"aa_length": 904,
"cds_start": 2581,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448528.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2548G>A",
"hgvs_p": "p.Glu850Lys",
"transcript": "ENST00000357674.9",
"protein_id": "ENSP00000350303.6",
"transcript_support_level": 1,
"aa_start": 850,
"aa_end": null,
"aa_length": 893,
"cds_start": 2548,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357674.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Glu883Lys",
"transcript": "NM_004087.2",
"protein_id": "NP_004078.2",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 926,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004087.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Glu883Lys",
"transcript": "ENST00000887908.1",
"protein_id": "ENSP00000557967.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 926,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887908.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Glu883Lys",
"transcript": "ENST00000918290.1",
"protein_id": "ENSP00000588349.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 926,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918290.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Glu883Lys",
"transcript": "ENST00000918296.1",
"protein_id": "ENSP00000588355.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 926,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918296.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Glu883Lys",
"transcript": "ENST00000948487.1",
"protein_id": "ENSP00000618546.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 926,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948487.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Glu883Lys",
"transcript": "ENST00000948489.1",
"protein_id": "ENSP00000618548.1",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 926,
"cds_start": 2647,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948489.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Glu882Lys",
"transcript": "NM_001366214.1",
"protein_id": "NP_001353143.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 925,
"cds_start": 2644,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366214.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Glu882Lys",
"transcript": "ENST00000660898.1",
"protein_id": "ENSP00000499363.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 925,
"cds_start": 2644,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000660898.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Glu882Lys",
"transcript": "ENST00000887910.1",
"protein_id": "ENSP00000557969.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 925,
"cds_start": 2644,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887910.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Glu882Lys",
"transcript": "ENST00000918291.1",
"protein_id": "ENSP00000588350.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 925,
"cds_start": 2644,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918291.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2644G>A",
"hgvs_p": "p.Glu882Lys",
"transcript": "ENST00000918292.1",
"protein_id": "ENSP00000588351.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 925,
"cds_start": 2644,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918292.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2605G>A",
"hgvs_p": "p.Glu869Lys",
"transcript": "ENST00000948486.1",
"protein_id": "ENSP00000618545.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 912,
"cds_start": 2605,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948486.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2593G>A",
"hgvs_p": "p.Glu865Lys",
"transcript": "ENST00000948496.1",
"protein_id": "ENSP00000618555.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 908,
"cds_start": 2593,
"cds_end": null,
"cds_length": 2727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948496.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2581G>A",
"hgvs_p": "p.Glu861Lys",
"transcript": "NM_001098424.1",
"protein_id": "NP_001091894.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 904,
"cds_start": 2581,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098424.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2581G>A",
"hgvs_p": "p.Glu861Lys",
"transcript": "NM_001290983.2",
"protein_id": "NP_001277912.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 904,
"cds_start": 2581,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290983.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG1",
"gene_hgnc_id": 2900,
"hgvs_c": "c.2581G>A",
"hgvs_p": "p.Glu861Lys",
"transcript": "NM_001366218.1",
"protein_id": "NP_001353147.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 904,
"cds_start": 2581,
"cds_end": null,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8655446171760559,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.582,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9173,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004087.2",
"gene_symbol": "DLG1",
"hgnc_id": 2900,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2647G>A",
"hgvs_p": "p.Glu883Lys"
}
],
"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
}