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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: 9-18504875-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=18504875&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 18504875,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001040272.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "NM_001040272.6",
"protein_id": "NP_001035362.3",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1762,
"cds_start": 110,
"cds_end": null,
"cds_length": 5289,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 7771,
"mane_select": "ENST00000380548.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040272.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "ENST00000380548.9",
"protein_id": "ENSP00000369921.4",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 1762,
"cds_start": 110,
"cds_end": null,
"cds_length": 5289,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 7771,
"mane_select": "NM_001040272.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380548.9"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "ENST00000327883.11",
"protein_id": "ENSP00000327887.7",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 525,
"cds_start": 110,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327883.11"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "ENST00000380566.8",
"protein_id": "ENSP00000369940.4",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 439,
"cds_start": 110,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380566.8"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "ENST00000380570.8",
"protein_id": "ENSP00000369944.4",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 219,
"cds_start": 110,
"cds_end": null,
"cds_length": 660,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380570.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.-341A>C",
"hgvs_p": null,
"transcript": "XM_017015313.1",
"protein_id": "XP_016870802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": null,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7744,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.-341A>C",
"hgvs_p": null,
"transcript": "XM_047424074.1",
"protein_id": "XP_047280030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": null,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424074.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.-341A>C",
"hgvs_p": null,
"transcript": "XM_047424076.1",
"protein_id": "XP_047280032.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1612,
"cds_start": null,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424076.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.254A>C",
"hgvs_p": "p.Asp85Ala",
"transcript": "ENST00000680146.1",
"protein_id": "ENSP00000505591.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 1810,
"cds_start": 254,
"cds_end": null,
"cds_length": 5433,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680146.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "ENST00000872893.1",
"protein_id": "ENSP00000542952.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1618,
"cds_start": 110,
"cds_end": null,
"cds_length": 4857,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 7463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872893.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "ENST00000276935.6",
"protein_id": "ENSP00000276935.5",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 683,
"cds_start": 110,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 110,
"cdna_end": null,
"cdna_length": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000276935.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "NM_052866.5",
"protein_id": "NP_443098.3",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 525,
"cds_start": 110,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052866.5"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "ENST00000431052.6",
"protein_id": "ENSP00000401157.2",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 185,
"cds_start": 110,
"cds_end": null,
"cds_length": 558,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431052.6"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.308A>C",
"hgvs_p": "p.Asp103Ala",
"transcript": "XM_011518063.3",
"protein_id": "XP_011516365.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 1828,
"cds_start": 308,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 8005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518063.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.266A>C",
"hgvs_p": "p.Asp89Ala",
"transcript": "XM_017015310.2",
"protein_id": "XP_016870799.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 1814,
"cds_start": 266,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 7035,
"cdna_end": null,
"cdna_length": 14616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015310.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.263A>C",
"hgvs_p": "p.Asp88Ala",
"transcript": "XM_011518064.4",
"protein_id": "XP_011516366.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1813,
"cds_start": 263,
"cds_end": null,
"cds_length": 5442,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 8038,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518064.4"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.308A>C",
"hgvs_p": "p.Asp103Ala",
"transcript": "XM_017015311.2",
"protein_id": "XP_016870800.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 1811,
"cds_start": 308,
"cds_end": null,
"cds_length": 5436,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 7954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015311.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.230A>C",
"hgvs_p": "p.Asp77Ala",
"transcript": "XM_047424072.1",
"protein_id": "XP_047280028.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 1802,
"cds_start": 230,
"cds_end": null,
"cds_length": 5409,
"cdna_start": 2751,
"cdna_end": null,
"cdna_length": 10332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424072.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.263A>C",
"hgvs_p": "p.Asp88Ala",
"transcript": "XM_017015312.3",
"protein_id": "XP_016870801.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 1796,
"cds_start": 263,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 7987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015312.3"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala",
"transcript": "XM_047424073.1",
"protein_id": "XP_047280029.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1745,
"cds_start": 110,
"cds_end": null,
"cds_length": 5238,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 7720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424073.1"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.308A>C",
"hgvs_p": "p.Asp103Ala",
"transcript": "XM_017015314.2",
"protein_id": "XP_016870803.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 1495,
"cds_start": 308,
"cds_end": null,
"cds_length": 4488,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 5231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017015314.2"
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"hgvs_c": "c.308A>C",
"hgvs_p": "p.Asp103Ala",
"transcript": "XM_047424077.1",
"protein_id": "XP_047280033.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 1478,
"cds_start": 308,
"cds_end": null,
"cds_length": 4437,
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{
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{
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],
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},
{
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],
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{
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},
{
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"5_prime_UTR_variant"
],
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"gene_symbol": "ADAMTSL1",
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"protein_id": "XP_047280032.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047424076.1"
}
],
"gene_symbol": "ADAMTSL1",
"gene_hgnc_id": 14632,
"dbsnp": "rs370239851",
"frequency_reference_population": 0.00006197015,
"hom_count_reference_population": 0,
"allele_count_reference_population": 100,
"gnomad_exomes_af": 0.0000677391,
"gnomad_genomes_af": 0.00000657073,
"gnomad_exomes_ac": 99,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7790340185165405,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.599,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9443,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.127,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001040272.6",
"gene_symbol": "ADAMTSL1",
"hgnc_id": 14632,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.110A>C",
"hgvs_p": "p.Asp37Ala"
}
],
"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
}