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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: 16-89556953-CC-TT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89556953&ref=CC&alt=TT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPG7",
"hgnc_id": 11237,
"hgvs_c": "c.2248_2249delCCinsTT",
"hgvs_p": "p.Pro750Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_003119.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PP3",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": "L",
"aa_end": null,
"aa_length": 795,
"aa_ref": "P",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 2263,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003119.4",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2248_2249delCCinsTT",
"hgvs_p": "p.Pro750Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000645818.2",
"protein_coding": true,
"protein_id": "NP_003110.1",
"strand": true,
"transcript": "NM_003119.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 795,
"aa_ref": "P",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 2263,
"cds_end": null,
"cds_length": 2388,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645818.2",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2248_2249delCCinsTT",
"hgvs_p": "p.Pro750Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003119.4",
"protein_coding": true,
"protein_id": "ENSP00000495795.2",
"strand": true,
"transcript": "ENST00000645818.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 788,
"aa_ref": "P",
"aa_start": 743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 2235,
"cds_end": null,
"cds_length": 2367,
"cds_start": 2227,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000268704.7",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2227_2228delCCinsTT",
"hgvs_p": "p.Pro743Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000268704.3",
"strand": true,
"transcript": "ENST00000268704.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 825,
"aa_ref": "P",
"aa_start": 780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2338,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918773.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2338_2339delCCinsTT",
"hgvs_p": "p.Pro780Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588832.1",
"strand": true,
"transcript": "ENST00000918773.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 820,
"aa_ref": "P",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 2338,
"cds_end": null,
"cds_length": 2463,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892261.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2323_2324delCCinsTT",
"hgvs_p": "p.Pro775Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562320.1",
"strand": true,
"transcript": "ENST00000892261.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 809,
"aa_ref": "P",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 2430,
"cds_start": 2290,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965633.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2290_2291delCCinsTT",
"hgvs_p": "p.Pro764Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635692.1",
"strand": true,
"transcript": "ENST00000965633.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 807,
"aa_ref": "P",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3104,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2284,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965632.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2284_2285delCCinsTT",
"hgvs_p": "p.Pro762Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635691.1",
"strand": true,
"transcript": "ENST00000965632.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 794,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 2385,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918772.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2245_2246delCCinsTT",
"hgvs_p": "p.Pro749Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588831.1",
"strand": true,
"transcript": "ENST00000918772.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 781,
"aa_ref": "P",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3051,
"cdna_start": 2247,
"cds_end": null,
"cds_length": 2346,
"cds_start": 2206,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918771.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2206_2207delCCinsTT",
"hgvs_p": "p.Pro736Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588830.1",
"strand": true,
"transcript": "ENST00000918771.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 780,
"aa_ref": "P",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3012,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 2343,
"cds_start": 2203,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644781.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2203_2204delCCinsTT",
"hgvs_p": "p.Pro735Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495473.1",
"strand": true,
"transcript": "ENST00000644781.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 758,
"aa_ref": "P",
"aa_start": 713,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 2188,
"cds_end": null,
"cds_length": 2277,
"cds_start": 2137,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643649.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2137_2138delCCinsTT",
"hgvs_p": "p.Pro713Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494806.1",
"strand": true,
"transcript": "ENST00000643649.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 751,
"aa_ref": "P",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3099,
"cdna_start": 2304,
"cds_end": null,
"cds_length": 2256,
"cds_start": 2116,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646303.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2116_2117delCCinsTT",
"hgvs_p": "p.Pro706Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494160.1",
"strand": true,
"transcript": "ENST00000646303.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 730,
"aa_ref": "P",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2872,
"cdna_start": 2067,
"cds_end": null,
"cds_length": 2193,
"cds_start": 2053,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892262.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.2053_2054delCCinsTT",
"hgvs_p": "p.Pro685Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562321.1",
"strand": true,
"transcript": "ENST00000892262.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 687,
"aa_ref": "P",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2750,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 2064,
"cds_start": 1924,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965630.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1924_1925delCCinsTT",
"hgvs_p": "p.Pro642Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635689.1",
"strand": true,
"transcript": "ENST00000965630.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 680,
"aa_ref": "P",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2689,
"cdna_start": 1905,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1903,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644671.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1903_1904delCCinsTT",
"hgvs_p": "p.Pro635Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495999.1",
"strand": true,
"transcript": "ENST00000644671.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 672,
"aa_ref": "P",
"aa_start": 627,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2701,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1879,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965631.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1879_1880delCCinsTT",
"hgvs_p": "p.Pro627Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635690.1",
"strand": true,
"transcript": "ENST00000965631.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 661,
"aa_ref": "P",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1860,
"cds_end": null,
"cds_length": 1986,
"cds_start": 1846,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965634.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1846_1847delCCinsTT",
"hgvs_p": "p.Pro616Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635693.1",
"strand": true,
"transcript": "ENST00000965634.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 659,
"aa_ref": "P",
"aa_start": 614,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": 2535,
"cds_end": null,
"cds_length": 1980,
"cds_start": 1840,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647079.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1840_1841delCCinsTT",
"hgvs_p": "p.Pro614Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495967.1",
"strand": true,
"transcript": "ENST00000647079.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 641,
"aa_ref": "P",
"aa_start": 596,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2593,
"cdna_start": 1807,
"cds_end": null,
"cds_length": 1926,
"cds_start": 1786,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000645897.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1786_1787delCCinsTT",
"hgvs_p": "p.Pro596Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495293.1",
"strand": true,
"transcript": "ENST00000645897.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 414,
"aa_ref": "P",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1106,
"cds_end": null,
"cds_length": 1245,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646445.1",
"gene_hgnc_id": 11237,
"gene_symbol": "SPG7",
"hgvs_c": "c.1105_1106delCCinsTT",
"hgvs_p": "p.Pro369Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496434.1",
"strand": true,
"transcript": "ENST00000646445.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 357,
"aa_ref": "P",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2142,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1074,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 9,
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"phylop100way_prediction": "Pathogenic",
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"transcript": "NM_003119.4"
}
]
}