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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: 19-53873775-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=53873775&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 53873775,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_138373.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_138373.5",
"protein_id": "NP_612382.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": "ENST00000391770.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138373.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000391770.9",
"protein_id": "ENSP00000375650.4",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": "NM_138373.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391770.9"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000391768.2",
"protein_id": "ENSP00000375648.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391768.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000391769.3",
"protein_id": "ENSP00000375649.2",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 4876,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391769.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001020818.2",
"protein_id": "NP_001018654.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001020818.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001020819.3",
"protein_id": "NP_001018655.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 3118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001020819.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001020820.3",
"protein_id": "NP_001018656.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 3040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001020820.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001020821.2",
"protein_id": "NP_001018657.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001020821.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001290188.2",
"protein_id": "NP_001277117.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290188.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001290189.1",
"protein_id": "NP_001277118.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 927,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290189.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001290190.2",
"protein_id": "NP_001277119.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290190.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001290191.2",
"protein_id": "NP_001277120.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290191.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001290192.2",
"protein_id": "NP_001277121.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 399,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290192.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001290193.2",
"protein_id": "NP_001277122.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290193.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "NM_001290194.2",
"protein_id": "NP_001277123.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 309,
"cdna_end": null,
"cdna_length": 2969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290194.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000391771.1",
"protein_id": "ENSP00000375651.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000391771.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000421337.6",
"protein_id": "ENSP00000398269.2",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421337.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000882280.1",
"protein_id": "ENSP00000552339.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 545,
"cdna_end": null,
"cdna_length": 2326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882280.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000882281.1",
"protein_id": "ENSP00000552340.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2381,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882281.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000882282.1",
"protein_id": "ENSP00000552341.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
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"cdna_start": 406,
"cdna_end": null,
"cdna_length": 2187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882282.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000882283.1",
"protein_id": "ENSP00000552342.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 372,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882283.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYADM",
"gene_hgnc_id": 7544,
"hgvs_c": "c.246C>G",
"hgvs_p": "p.Ile82Met",
"transcript": "ENST00000882284.1",
"protein_id": "ENSP00000552343.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 322,
"cds_start": 246,
"cds_end": null,
"cds_length": 969,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
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{
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"phenotype_combined": "not specified",
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}
],
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}