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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: 18-50273809-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50273809&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 50273809,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000269468.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Pro401Ser",
"transcript": "NM_015846.4",
"protein_id": "NP_056671.2",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 605,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": "ENST00000269468.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Pro401Ser",
"transcript": "ENST00000269468.10",
"protein_id": "ENSP00000269468.5",
"transcript_support_level": 5,
"aa_start": 401,
"aa_end": null,
"aa_length": 605,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": "NM_015846.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Pro401Ser",
"transcript": "ENST00000590208.5",
"protein_id": "ENSP00000468785.1",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 655,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Pro378Ser",
"transcript": "ENST00000588937.5",
"protein_id": "ENSP00000467763.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 586,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Pro351Ser",
"transcript": "ENST00000585672.5",
"protein_id": "ENSP00000466092.1",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 567,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Pro352Ser",
"transcript": "ENST00000353909.7",
"protein_id": "ENSP00000269469.5",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 556,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Pro401Ser",
"transcript": "ENST00000339998.10",
"protein_id": "ENSP00000339546.5",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 550,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1340,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Pro345Ser",
"transcript": "ENST00000347968.7",
"protein_id": "ENSP00000285102.5",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 549,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1650,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 3091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1132C>T",
"hgvs_p": "p.Pro378Ser",
"transcript": "ENST00000591535.5",
"protein_id": "ENSP00000465923.1",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 536,
"cds_start": 1132,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1132,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Pro345Ser",
"transcript": "ENST00000398488.5",
"protein_id": "ENSP00000381502.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 503,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"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": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.733C>T",
"hgvs_p": "p.Pro245Ser",
"transcript": "ENST00000592060.5",
"protein_id": "ENSP00000467606.1",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 415,
"cds_start": 733,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Pro426Ser",
"transcript": "NM_001323942.2",
"protein_id": "NP_001310871.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 680,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Pro426Ser",
"transcript": "ENST00000705655.1",
"protein_id": "ENSP00000516153.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 680,
"cds_start": 1276,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1363,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Pro426Ser",
"transcript": "NM_001323947.2",
"protein_id": "NP_001310876.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 665,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Pro426Ser",
"transcript": "NM_001388145.1",
"protein_id": "NP_001375074.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 662,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1207C>T",
"hgvs_p": "p.Pro403Ser",
"transcript": "NM_001399879.1",
"protein_id": "NP_001386808.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 657,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1393,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1354C>T",
"hgvs_p": "p.Pro452Ser",
"transcript": "NM_001399880.1",
"protein_id": "NP_001386809.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 656,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Pro401Ser",
"transcript": "NM_001204136.2",
"protein_id": "NP_001191065.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 655,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1968,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1198C>T",
"hgvs_p": "p.Pro400Ser",
"transcript": "NM_001399881.1",
"protein_id": "NP_001386810.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 654,
"cds_start": 1198,
"cds_end": null,
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"cdna_start": 1384,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Pro401Ser",
"transcript": "NM_001399882.1",
"protein_id": "NP_001386811.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 651,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1956,
"cdna_start": 1387,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Pro426Ser",
"transcript": "NM_001388146.1",
"protein_id": "NP_001375075.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 647,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Pro426Ser",
"transcript": "NM_001388147.1",
"protein_id": "NP_001375076.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 642,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 2818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1273C>T",
"hgvs_p": "p.Pro425Ser",
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"verdict": "Uncertain_significance",
"transcript": "ENST00000269468.10",
"gene_symbol": "MBD1",
"hgnc_id": 6916,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1201C>T",
"hgvs_p": "p.Pro401Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}