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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: 1-46933960-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=46933960&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 46933960,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000778.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "NM_000778.4",
"protein_id": "NP_000769.2",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 519,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310638.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000778.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000310638.9",
"protein_id": "ENSP00000311095.4",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 519,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000778.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310638.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1208G>A",
"hgvs_p": "p.Arg403His",
"transcript": "ENST00000371905.1",
"protein_id": "ENSP00000360972.1",
"transcript_support_level": 1,
"aa_start": 403,
"aa_end": null,
"aa_length": 455,
"cds_start": 1208,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371905.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "n.*6G>A",
"hgvs_p": null,
"transcript": "ENST00000465874.5",
"protein_id": "ENSP00000476368.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465874.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "n.*6G>A",
"hgvs_p": null,
"transcript": "ENST00000465874.5",
"protein_id": "ENSP00000476368.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465874.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1319G>A",
"hgvs_p": "p.Arg440His",
"transcript": "ENST00000909039.1",
"protein_id": "ENSP00000579098.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 556,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909039.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1232G>A",
"hgvs_p": "p.Arg411His",
"transcript": "ENST00000909036.1",
"protein_id": "ENSP00000579095.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 527,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909036.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1226G>A",
"hgvs_p": "p.Arg409His",
"transcript": "ENST00000909031.1",
"protein_id": "ENSP00000579090.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 525,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909031.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1199G>A",
"hgvs_p": "p.Arg400His",
"transcript": "ENST00000909028.1",
"protein_id": "ENSP00000579087.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 516,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909028.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1190G>A",
"hgvs_p": "p.Arg397His",
"transcript": "ENST00000909041.1",
"protein_id": "ENSP00000579100.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 513,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909041.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1178G>A",
"hgvs_p": "p.Arg393His",
"transcript": "ENST00000909056.1",
"protein_id": "ENSP00000579115.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 509,
"cds_start": 1178,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909056.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1163G>A",
"hgvs_p": "p.Arg388His",
"transcript": "ENST00000909035.1",
"protein_id": "ENSP00000579094.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 504,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909035.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Arg386His",
"transcript": "ENST00000909045.1",
"protein_id": "ENSP00000579104.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 502,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909045.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382His",
"transcript": "ENST00000909022.1",
"protein_id": "ENSP00000579081.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 498,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909022.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1142G>A",
"hgvs_p": "p.Arg381His",
"transcript": "ENST00000909027.1",
"protein_id": "ENSP00000579086.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 497,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909027.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377His",
"transcript": "ENST00000909058.1",
"protein_id": "ENSP00000579117.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 493,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909058.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "NM_001319155.2",
"protein_id": "NP_001306084.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 487,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319155.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1112G>A",
"hgvs_p": "p.Arg371His",
"transcript": "ENST00000909023.1",
"protein_id": "ENSP00000579082.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 487,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909023.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1103G>A",
"hgvs_p": "p.Arg368His",
"transcript": "ENST00000909057.1",
"protein_id": "ENSP00000579116.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 484,
"cds_start": 1103,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909057.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1079G>A",
"hgvs_p": "p.Arg360His",
"transcript": "ENST00000909050.1",
"protein_id": "ENSP00000579109.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 476,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909050.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1073G>A",
"hgvs_p": "p.Arg358His",
"transcript": "ENST00000909046.1",
"protein_id": "ENSP00000579105.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 474,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909046.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYP4A11",
"gene_hgnc_id": 2642,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Arg354His",
"transcript": "ENST00000909037.1",
"protein_id": "ENSP00000579096.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 470,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1413,
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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
}