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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: 2-241253433-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241253433&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241253433,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000310931.10",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "NM_005336.6",
"protein_id": "NP_005327.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 6322,
"mane_select": "ENST00000310931.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "ENST00000310931.10",
"protein_id": "ENSP00000312042.4",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 6322,
"mane_select": "NM_005336.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "ENST00000391975.5",
"protein_id": "ENSP00000375836.1",
"transcript_support_level": 1,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 6372,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "NM_001320965.3",
"protein_id": "NP_001307894.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 6348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "NM_001320966.3",
"protein_id": "NP_001307895.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1404,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "NM_203346.6",
"protein_id": "NP_976221.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 6293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "ENST00000391976.6",
"protein_id": "ENSP00000375837.2",
"transcript_support_level": 5,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1546,
"cdna_end": null,
"cdna_length": 4489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "NM_001320967.3",
"protein_id": "NP_001307896.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1250,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3753,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1154A>G",
"hgvs_p": "p.Asn385Ser",
"transcript": "NM_001243900.3",
"protein_id": "NP_001230829.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1154,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 6217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1154A>G",
"hgvs_p": "p.Asn385Ser",
"transcript": "ENST00000427183.6",
"protein_id": "ENSP00000399139.2",
"transcript_support_level": 2,
"aa_start": 385,
"aa_end": null,
"aa_length": 1235,
"cds_start": 1154,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 6238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asn226Ser",
"transcript": "ENST00000373292.8",
"protein_id": "ENSP00000362389.4",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 972,
"cds_start": 677,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.Asn295Ser",
"transcript": "ENST00000453141.5",
"protein_id": "ENSP00000393766.1",
"transcript_support_level": 3,
"aa_start": 295,
"aa_end": null,
"aa_length": 330,
"cds_start": 884,
"cds_end": null,
"cds_length": 995,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_005247002.5",
"protein_id": "XP_005247059.2",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 6307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_011511058.4",
"protein_id": "XP_011509360.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 6569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_011511060.4",
"protein_id": "XP_011509362.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_024452833.2",
"protein_id": "XP_024308601.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
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"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 6789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_047444067.1",
"protein_id": "XP_047300023.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 19789,
"cdna_end": null,
"cdna_length": 24653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_047444068.1",
"protein_id": "XP_047300024.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 20036,
"cdna_end": null,
"cdna_length": 24900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_047444069.1",
"protein_id": "XP_047300025.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
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"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 6515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_047444070.1",
"protein_id": "XP_047300026.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 20256,
"cdna_end": null,
"cdna_length": 25120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_047444071.1",
"protein_id": "XP_047300027.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 20161,
"cdna_end": null,
"cdna_length": 25025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
"hgvs_c": "c.1253A>G",
"hgvs_p": "p.Asn418Ser",
"transcript": "XM_047444072.1",
"protein_id": "XP_047300028.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 1268,
"cds_start": 1253,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3652,
"cdna_end": null,
"cdna_length": 8516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDLBP",
"gene_hgnc_id": 4857,
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}
],
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}