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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: 20-44622911-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=44622911&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 44622911,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000372874.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Thr233Ile",
"transcript": "NM_000022.4",
"protein_id": "NP_000013.2",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 363,
"cds_start": 698,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": "ENST00000372874.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Thr233Ile",
"transcript": "ENST00000372874.9",
"protein_id": "ENSP00000361965.4",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 363,
"cds_start": 698,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": "NM_000022.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Thr209Ile",
"transcript": "ENST00000537820.2",
"protein_id": "ENSP00000441818.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 339,
"cds_start": 626,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Thr103Ile",
"transcript": "ENST00000695995.1",
"protein_id": "ENSP00000512318.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 233,
"cds_start": 308,
"cds_end": null,
"cds_length": 702,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Thr79Ile",
"transcript": "ENST00000695991.1",
"protein_id": "ENSP00000512314.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 209,
"cds_start": 236,
"cds_end": null,
"cds_length": 630,
"cdna_start": 307,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "n.*520C>T",
"hgvs_p": null,
"transcript": "ENST00000696038.1",
"protein_id": "ENSP00000512344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "n.*520C>T",
"hgvs_p": null,
"transcript": "ENST00000696038.1",
"protein_id": "ENSP00000512344.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Gln80*",
"transcript": "ENST00000695889.1",
"protein_id": "ENSP00000512240.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 188,
"cds_start": 238,
"cds_end": null,
"cds_length": 567,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.85C>T",
"hgvs_p": "p.Gln29*",
"transcript": "ENST00000696065.1",
"protein_id": "ENSP00000512368.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 137,
"cds_start": 85,
"cds_end": null,
"cds_length": 414,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Thr256Ile",
"transcript": "ENST00000696076.1",
"protein_id": "ENSP00000512375.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 441,
"cds_start": 767,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"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": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Ile",
"transcript": "ENST00000696017.1",
"protein_id": "ENSP00000512333.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 417,
"cds_start": 695,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 1927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Thr233Ile",
"transcript": "ENST00000696080.1",
"protein_id": "ENSP00000512379.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 400,
"cds_start": 698,
"cds_end": null,
"cds_length": 1203,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Ile",
"transcript": "ENST00000696079.1",
"protein_id": "ENSP00000512378.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 399,
"cds_start": 695,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Ile",
"transcript": "ENST00000695927.1",
"protein_id": "ENSP00000512270.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 389,
"cds_start": 776,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Thr258Ile",
"transcript": "ENST00000696063.1",
"protein_id": "ENSP00000512366.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 388,
"cds_start": 773,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.773C>T",
"hgvs_p": "p.Thr258Ile",
"transcript": "ENST00000696082.1",
"protein_id": "ENSP00000512380.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 388,
"cds_start": 773,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 1479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.698C>T",
"hgvs_p": "p.Thr233Ile",
"transcript": "ENST00000695993.1",
"protein_id": "ENSP00000512316.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 387,
"cds_start": 698,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Ile",
"transcript": "ENST00000696058.1",
"protein_id": "ENSP00000512361.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 386,
"cds_start": 695,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.767C>T",
"hgvs_p": "p.Thr256Ile",
"transcript": "ENST00000696060.1",
"protein_id": "ENSP00000512363.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 386,
"cds_start": 767,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.761C>T",
"hgvs_p": "p.Thr254Ile",
"transcript": "ENST00000696062.1",
"protein_id": "ENSP00000512365.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 384,
"cds_start": 761,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Ile",
"transcript": "ENST00000696061.1",
"protein_id": "ENSP00000512364.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 362,
"cds_start": 695,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.695C>T",
"hgvs_p": "p.Thr232Ile",
"transcript": "ENST00000696078.1",
"protein_id": "ENSP00000512377.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 362,
"cds_start": 695,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADA",
"gene_hgnc_id": 186,
"hgvs_c": "c.692C>T",
"hgvs_p": "p.Thr231Ile",
"transcript": "ENST00000696077.1",
"protein_id": "ENSP00000512376.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 361,
"cds_start": 692,
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "Partial adenosine deaminase deficiency|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency",
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}
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}