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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: 10-26128444-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=26128444&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 26128444,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_017433.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "NM_017433.5",
"protein_id": "NP_059129.3",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000642920.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017433.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "ENST00000642920.2",
"protein_id": "ENSP00000495965.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017433.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642920.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.1776+31762A>T",
"hgvs_p": null,
"transcript": "ENST00000543632.5",
"protein_id": "ENSP00000445909.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": null,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543632.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "ENST00000916509.1",
"protein_id": "ENSP00000586568.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1532,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916509.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "ENST00000916508.1",
"protein_id": "ENSP00000586567.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1458,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916508.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2012A>T",
"hgvs_p": "p.Asn671Ile",
"transcript": "ENST00000916510.1",
"protein_id": "ENSP00000586569.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1432,
"cds_start": 2012,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916510.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_011519498.3",
"protein_id": "XP_011517800.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519498.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_011519499.2",
"protein_id": "XP_011517801.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519499.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_011519500.3",
"protein_id": "XP_011517802.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1616,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519500.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_011519502.1",
"protein_id": "XP_011517804.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1612,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519502.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_011519503.2",
"protein_id": "XP_011517805.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1568,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519503.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_047425355.1",
"protein_id": "XP_047281311.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1565,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425355.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2012A>T",
"hgvs_p": "p.Asn671Ile",
"transcript": "XM_047425356.1",
"protein_id": "XP_047281312.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1564,
"cds_start": 2012,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425356.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2012A>T",
"hgvs_p": "p.Asn671Ile",
"transcript": "XM_047425357.1",
"protein_id": "XP_047281313.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1564,
"cds_start": 2012,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425357.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_011519505.2",
"protein_id": "XP_011517807.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1532,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519505.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_011519506.3",
"protein_id": "XP_011517808.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1523,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519506.3"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2012A>T",
"hgvs_p": "p.Asn671Ile",
"transcript": "XM_047425358.1",
"protein_id": "XP_047281314.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1516,
"cds_start": 2012,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425358.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_047425359.1",
"protein_id": "XP_047281315.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1505,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425359.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_047425360.1",
"protein_id": "XP_047281316.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1484,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425360.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2012A>T",
"hgvs_p": "p.Asn671Ile",
"transcript": "XM_047425361.1",
"protein_id": "XP_047281317.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 1480,
"cds_start": 2012,
"cds_end": null,
"cds_length": 4443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425361.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_011519508.2",
"protein_id": "XP_011517810.1",
"transcript_support_level": null,
"aa_start": 723,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2168,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519508.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO3A",
"gene_hgnc_id": 7601,
"hgvs_c": "c.2168A>T",
"hgvs_p": "p.Asn723Ile",
"transcript": "XM_047425363.1",
"protein_id": "XP_047281319.1",
"transcript_support_level": null,
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"custom_annotations": null
}
],
"message": null
}