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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: 1-169596133-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=169596133&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SELP",
"hgnc_id": 10721,
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003005.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 830,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003005.4",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263686.11",
"protein_coding": true,
"protein_id": "NP_002996.2",
"strand": false,
"transcript": "NM_003005.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 830,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3157,
"cdna_start": 1943,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000263686.11",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003005.4",
"protein_coding": true,
"protein_id": "ENSP00000263686.5",
"strand": false,
"transcript": "ENST00000263686.11",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 789,
"aa_ref": "G",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1889,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426706.6",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1889_1890delGCinsAT",
"hgvs_p": "p.Gly630Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391694.2",
"strand": false,
"transcript": "ENST00000426706.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 830,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3733,
"cdna_start": 1987,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909597.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579656.1",
"strand": false,
"transcript": "ENST00000909597.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 830,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3602,
"cdna_start": 1980,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909601.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579660.1",
"strand": false,
"transcript": "ENST00000909601.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 830,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909602.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579661.1",
"strand": false,
"transcript": "ENST00000909602.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 830,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3839,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909607.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579666.1",
"strand": false,
"transcript": "ENST00000909607.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 830,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 1939,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909608.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579667.1",
"strand": false,
"transcript": "ENST00000909608.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 830,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3736,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958021.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628080.1",
"strand": false,
"transcript": "ENST00000958021.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 830,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3610,
"cdna_start": 1954,
"cds_end": null,
"cds_length": 2493,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958023.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628082.1",
"strand": false,
"transcript": "ENST00000958023.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 829,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3267,
"cdna_start": 1952,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909604.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579663.1",
"strand": false,
"transcript": "ENST00000909604.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 829,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909609.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579668.1",
"strand": false,
"transcript": "ENST00000909609.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
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"aa_length": 829,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3221,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2490,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958025.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628084.1",
"strand": false,
"transcript": "ENST00000958025.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 790,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3485,
"cdna_start": 1971,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909598.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579657.1",
"strand": false,
"transcript": "ENST00000909598.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 790,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3719,
"cdna_start": 1940,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909606.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579665.1",
"strand": false,
"transcript": "ENST00000909606.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 790,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909610.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579669.1",
"strand": false,
"transcript": "ENST00000909610.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 790,
"aa_ref": "G",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1892,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958022.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1892_1893delGCinsAT",
"hgvs_p": "p.Gly631Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628081.1",
"strand": false,
"transcript": "ENST00000958022.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 768,
"aa_ref": "G",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1706,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367786.6",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1706_1707delGCinsAT",
"hgvs_p": "p.Gly569Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356760.1",
"strand": false,
"transcript": "ENST00000367786.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 768,
"aa_ref": "G",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2427,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1706,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000367788.6",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1706_1707delGCinsAT",
"hgvs_p": "p.Gly569Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356762.1",
"strand": false,
"transcript": "ENST00000367788.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 768,
"aa_ref": "G",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3499,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1706,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909599.1",
"gene_hgnc_id": 10721,
"gene_symbol": "SELP",
"hgvs_c": "c.1706_1707delGCinsAT",
"hgvs_p": "p.Gly569Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579658.1",
"strand": false,
"transcript": "ENST00000909599.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 768,
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