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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: 18-50269647-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50269647&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 50269647,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001323942.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Cys650Cys",
"transcript": "ENST00000590208.5",
"protein_id": "ENSP00000468785.1",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 655,
"cds_start": 1950,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590208.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1743C>T",
"hgvs_p": "p.Cys581Cys",
"transcript": "ENST00000588937.5",
"protein_id": "ENSP00000467763.1",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 586,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588937.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*204C>T",
"hgvs_p": null,
"transcript": "NM_015846.4",
"protein_id": "NP_056671.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269468.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015846.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*204C>T",
"hgvs_p": null,
"transcript": "ENST00000269468.10",
"protein_id": "ENSP00000269468.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": null,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015846.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269468.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*204C>T",
"hgvs_p": null,
"transcript": "ENST00000353909.7",
"protein_id": "ENSP00000269469.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000353909.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*364C>T",
"hgvs_p": null,
"transcript": "ENST00000339998.10",
"protein_id": "ENSP00000339546.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": null,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339998.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.*204C>T",
"hgvs_p": null,
"transcript": "ENST00000347968.7",
"protein_id": "ENSP00000285102.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347968.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1629-1984C>T",
"hgvs_p": null,
"transcript": "ENST00000585672.5",
"protein_id": "ENSP00000466092.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": null,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585672.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1173-1984C>T",
"hgvs_p": null,
"transcript": "ENST00000592060.5",
"protein_id": "ENSP00000467606.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": null,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592060.5"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.2025C>T",
"hgvs_p": "p.Cys675Cys",
"transcript": "NM_001323942.2",
"protein_id": "NP_001310871.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 680,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323942.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.2025C>T",
"hgvs_p": "p.Cys675Cys",
"transcript": "ENST00000705655.1",
"protein_id": "ENSP00000516153.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 680,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705655.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1980C>T",
"hgvs_p": "p.Cys660Cys",
"transcript": "NM_001323947.2",
"protein_id": "NP_001310876.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 665,
"cds_start": 1980,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323947.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1956C>T",
"hgvs_p": "p.Cys652Cys",
"transcript": "NM_001399879.1",
"protein_id": "NP_001386808.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 657,
"cds_start": 1956,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399879.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1950C>T",
"hgvs_p": "p.Cys650Cys",
"transcript": "NM_001204136.2",
"protein_id": "NP_001191065.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 655,
"cds_start": 1950,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001204136.2"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1947C>T",
"hgvs_p": "p.Cys649Cys",
"transcript": "NM_001399881.1",
"protein_id": "NP_001386810.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 654,
"cds_start": 1947,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399881.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1938C>T",
"hgvs_p": "p.Cys646Cys",
"transcript": "NM_001399882.1",
"protein_id": "NP_001386811.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 651,
"cds_start": 1938,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399882.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1905C>T",
"hgvs_p": "p.Cys635Cys",
"transcript": "NM_001388148.1",
"protein_id": "NP_001375077.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 640,
"cds_start": 1905,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388148.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1887C>T",
"hgvs_p": "p.Cys629Cys",
"transcript": "NM_001388150.1",
"protein_id": "NP_001375079.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 634,
"cds_start": 1887,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388150.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1875C>T",
"hgvs_p": "p.Cys625Cys",
"transcript": "NM_001399887.1",
"protein_id": "NP_001386816.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 630,
"cds_start": 1875,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399887.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1857C>T",
"hgvs_p": "p.Cys619Cys",
"transcript": "NM_001388151.1",
"protein_id": "NP_001375080.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 624,
"cds_start": 1857,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388151.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1818C>T",
"hgvs_p": "p.Cys606Cys",
"transcript": "NM_001399894.1",
"protein_id": "NP_001386823.1",
"transcript_support_level": null,
"aa_start": 606,
"aa_end": null,
"aa_length": 611,
"cds_start": 1818,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001399894.1"
},
{
"aa_ref": "C",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD1",
"gene_hgnc_id": 6916,
"hgvs_c": "c.1812C>T",
"hgvs_p": "p.Cys604Cys",
"transcript": "NM_001388155.1",
"protein_id": "NP_001375084.1",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 609,
"cds_start": 1812,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388155.1"
},
{
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}