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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: 18-8069870-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=8069870&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 8069870,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000580170.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1317C>T",
"hgvs_p": "p.Asn439Asn",
"transcript": "NM_001105244.2",
"protein_id": "NP_001098714.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 1465,
"cds_start": 1317,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": "ENST00000580170.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1317C>T",
"hgvs_p": "p.Asn439Asn",
"transcript": "ENST00000580170.6",
"protein_id": "ENSP00000463325.1",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 1465,
"cds_start": 1317,
"cds_end": null,
"cds_length": 4398,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 5595,
"mane_select": "NM_001105244.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1317C>T",
"hgvs_p": "p.Asn439Asn",
"transcript": "ENST00000332175.12",
"protein_id": "ENSP00000331418.8",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 1452,
"cds_start": 1317,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 6095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1317C>T",
"hgvs_p": "p.Asn439Asn",
"transcript": "NM_002845.4",
"protein_id": "NP_002836.3",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 1452,
"cds_start": 1317,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 5556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1131C>T",
"hgvs_p": "p.Asn377Asn",
"transcript": "ENST00000400053.8",
"protein_id": "ENSP00000382927.4",
"transcript_support_level": 5,
"aa_start": 377,
"aa_end": null,
"aa_length": 1390,
"cds_start": 1131,
"cds_end": null,
"cds_length": 4173,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 5292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Asn226Asn",
"transcript": "NM_001378147.1",
"protein_id": "NP_001365076.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1294,
"cds_start": 678,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 4658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Asn226Asn",
"transcript": "NM_001378145.1",
"protein_id": "NP_001365074.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1277,
"cds_start": 678,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Asn226Asn",
"transcript": "NM_001378146.1",
"protein_id": "NP_001365075.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1269,
"cds_start": 678,
"cds_end": null,
"cds_length": 3810,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Asn226Asn",
"transcript": "NM_001378144.1",
"protein_id": "NP_001365073.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1264,
"cds_start": 678,
"cds_end": null,
"cds_length": 3795,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 4568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Asn226Asn",
"transcript": "NM_001378143.1",
"protein_id": "NP_001365072.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1252,
"cds_start": 678,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Asn226Asn",
"transcript": "NM_001378142.1",
"protein_id": "NP_001365071.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 1239,
"cds_start": 678,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025894.2",
"protein_id": "XP_016881383.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1532,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4599,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025895.2",
"protein_id": "XP_016881384.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1528,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4587,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025896.2",
"protein_id": "XP_016881385.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1519,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025897.2",
"protein_id": "XP_016881386.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1515,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4548,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025898.2",
"protein_id": "XP_016881387.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1511,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4536,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1317C>T",
"hgvs_p": "p.Asn439Asn",
"transcript": "XM_011525708.3",
"protein_id": "XP_011524010.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 1507,
"cds_start": 1317,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 5721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025899.2",
"protein_id": "XP_016881388.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1507,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025900.2",
"protein_id": "XP_016881389.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1502,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025901.2",
"protein_id": "XP_016881390.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025902.2",
"protein_id": "XP_016881391.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1490,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4473,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRM",
"gene_hgnc_id": 9675,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Asn464Asn",
"transcript": "XM_017025903.2",
"protein_id": "XP_016881392.2",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 1486,
"cds_start": 1392,
"cds_end": null,
"cds_length": 4461,
"cdna_start": 1406,
"cdna_end": null,
"cdna_length": 5169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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],
"verdict": "Benign",
"transcript": "ENST00000580170.6",
"gene_symbol": "PTPRM",
"hgnc_id": 9675,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1317C>T",
"hgvs_p": "p.Asn439Asn"
}
],
"clinvar_disease": "PTPRM-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "PTPRM-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}