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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: 4-2904980-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2904980&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2904980,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001354761.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "NM_001354761.2",
"protein_id": "NP_001341690.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 799,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": "ENST00000683351.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354761.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000683351.1",
"protein_id": "ENSP00000508142.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 799,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": "NM_001354761.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683351.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000355842.7",
"protein_id": "ENSP00000348100.3",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 662,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355842.7"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000398123.6",
"protein_id": "ENSP00000381191.2",
"transcript_support_level": 1,
"aa_start": 460,
"aa_end": null,
"aa_length": 662,
"cds_start": 1378,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398123.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000857027.1",
"protein_id": "ENSP00000527086.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 799,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1623,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857027.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000948356.1",
"protein_id": "ENSP00000618415.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 799,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1723,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948356.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "NM_001354756.2",
"protein_id": "NP_001341685.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354756.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "NM_014189.4",
"protein_id": "NP_054908.2",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014189.4"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000264758.11",
"protein_id": "ENSP00000264758.6",
"transcript_support_level": 5,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264758.11"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000857014.1",
"protein_id": "ENSP00000527073.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1564,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857014.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000857022.1",
"protein_id": "ENSP00000527081.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857022.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000857023.1",
"protein_id": "ENSP00000527082.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857023.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000857028.1",
"protein_id": "ENSP00000527087.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857028.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000857029.1",
"protein_id": "ENSP00000527088.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857029.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000948354.1",
"protein_id": "ENSP00000618413.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1607,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948354.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000948363.1",
"protein_id": "ENSP00000618422.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948363.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000948364.1",
"protein_id": "ENSP00000618423.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 768,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948364.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "ENST00000948361.1",
"protein_id": "ENSP00000618420.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 759,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948361.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Gly433Trp",
"transcript": "ENST00000948358.1",
"protein_id": "ENSP00000618417.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 741,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948358.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "NM_001119.5",
"protein_id": "NP_001110.2",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 737,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001119.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "NM_001354754.2",
"protein_id": "NP_001341683.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 737,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1594,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354754.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp",
"transcript": "NM_001354755.2",
"protein_id": "NP_001341684.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 737,
"cds_start": 1378,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1663,
"cdna_end": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": 0.243,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.676,
"phylop100way_prediction": "Uncertain_significance",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001354761.2",
"gene_symbol": "ADD1",
"hgnc_id": 243,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1378G>T",
"hgvs_p": "p.Gly460Trp"
}
],
"clinvar_disease": " salt-sensitive essential, susceptibility to,Hypertension,hydrochlorothiazide response - Efficacy",
"clinvar_classification": "drug response",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Hypertension, salt-sensitive essential, susceptibility to|hydrochlorothiazide response - Efficacy",
"pathogenicity_classification_combined": "drug response",
"custom_annotations": null
}
],
"message": null
}