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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: 18-23531702-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23531702&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23531702,
"ref": "T",
"alt": "C",
"effect": "stop_lost",
"transcript": "NM_013326.5",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1972T>C",
"hgvs_p": "p.Ter658Argext*?",
"transcript": "NM_013326.5",
"protein_id": "NP_037458.3",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 657,
"cds_start": 1972,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": "ENST00000269221.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013326.5"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1972T>C",
"hgvs_p": "p.Ter658Argext*?",
"transcript": "ENST00000269221.8",
"protein_id": "ENSP00000269221.2",
"transcript_support_level": 1,
"aa_start": 658,
"aa_end": null,
"aa_length": 657,
"cds_start": 1972,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": "NM_013326.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269221.8"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1828T>C",
"hgvs_p": "p.Ter610Argext*?",
"transcript": "ENST00000590868.5",
"protein_id": "ENSP00000467007.1",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 609,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590868.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.*500A>G",
"hgvs_p": null,
"transcript": "NM_000271.5",
"protein_id": "NP_000262.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": null,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "ENST00000269228.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000271.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.*500A>G",
"hgvs_p": null,
"transcript": "ENST00000269228.10",
"protein_id": "ENSP00000269228.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1278,
"cds_start": null,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "NM_000271.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269228.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.*18T>C",
"hgvs_p": null,
"transcript": "ENST00000615148.5",
"protein_id": "ENSP00000482573.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": null,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615148.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NPC1",
"gene_hgnc_id": 7897,
"hgvs_c": "c.85+1653A>G",
"hgvs_p": null,
"transcript": "ENST00000593280.2",
"protein_id": "ENSP00000467150.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 41,
"cds_start": null,
"cds_end": null,
"cds_length": 126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593280.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*1505T>C",
"hgvs_p": null,
"transcript": "ENST00000589215.5",
"protein_id": "ENSP00000467852.1",
"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": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589215.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "n.*1505T>C",
"hgvs_p": null,
"transcript": "ENST00000589215.5",
"protein_id": "ENSP00000467852.1",
"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": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000589215.5"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.2020T>C",
"hgvs_p": "p.Ter674Argext*?",
"transcript": "ENST00000897724.1",
"protein_id": "ENSP00000567783.1",
"transcript_support_level": null,
"aa_start": 674,
"aa_end": null,
"aa_length": 673,
"cds_start": 2020,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897724.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1987T>C",
"hgvs_p": "p.Ter663Argext*?",
"transcript": "ENST00000926737.1",
"protein_id": "ENSP00000596796.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 662,
"cds_start": 1987,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926737.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1969T>C",
"hgvs_p": "p.Ter657Argext*?",
"transcript": "ENST00000897720.1",
"protein_id": "ENSP00000567779.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 656,
"cds_start": 1969,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897720.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1939T>C",
"hgvs_p": "p.Ter647Argext*?",
"transcript": "ENST00000897725.1",
"protein_id": "ENSP00000567784.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 646,
"cds_start": 1939,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 2115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897725.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1915T>C",
"hgvs_p": "p.Ter639Argext*?",
"transcript": "ENST00000949335.1",
"protein_id": "ENSP00000619394.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 638,
"cds_start": 1915,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949335.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1912T>C",
"hgvs_p": "p.Ter638Argext*?",
"transcript": "ENST00000949337.1",
"protein_id": "ENSP00000619396.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 637,
"cds_start": 1912,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949337.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Ter632Argext*?",
"transcript": "ENST00000897721.1",
"protein_id": "ENSP00000567780.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 631,
"cds_start": 1894,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897721.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1885T>C",
"hgvs_p": "p.Ter629Argext*?",
"transcript": "ENST00000897722.1",
"protein_id": "ENSP00000567781.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 628,
"cds_start": 1885,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 2008,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897722.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1867T>C",
"hgvs_p": "p.Ter623Argext*?",
"transcript": "ENST00000949338.1",
"protein_id": "ENSP00000619397.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 622,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949338.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1843T>C",
"hgvs_p": "p.Ter615Argext*?",
"transcript": "ENST00000949339.1",
"protein_id": "ENSP00000619398.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 614,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1939,
"cdna_end": null,
"cdna_length": 2013,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949339.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1828T>C",
"hgvs_p": "p.Ter610Argext*?",
"transcript": "NM_001318709.1",
"protein_id": "NP_001305638.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 609,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318709.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1786T>C",
"hgvs_p": "p.Ter596Argext*?",
"transcript": "ENST00000897726.1",
"protein_id": "ENSP00000567785.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 595,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897726.1"
},
{
"aa_ref": "*",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMC1",
"gene_hgnc_id": 24326,
"hgvs_c": "c.1666T>C",
"hgvs_p": "p.Ter556Argext*?",
"transcript": "ENST00000897723.1",
"protein_id": "ENSP00000567782.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 555,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1774,
"cdna_end": null,
"cdna_length": 1854,
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"criteria": [
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"PM4"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AD",
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{
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],
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}
],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Niemann-Pick disease, type C1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}