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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: 4-153558286-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=153558286&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 153558286,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001131007.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "NM_001131007.2",
"protein_id": "NP_001124479.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1610,
"cds_start": 578,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409959.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131007.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000409959.8",
"protein_id": "ENSP00000386787.3",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 1610,
"cds_start": 578,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001131007.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409959.8"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.161C>T",
"hgvs_p": "p.Ser54Phe",
"transcript": "ENST00000240487.5",
"protein_id": "ENSP00000240487.5",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 1387,
"cds_start": 161,
"cds_end": null,
"cds_length": 4164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240487.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "NM_015196.4",
"protein_id": "NP_056011.3",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1609,
"cds_start": 578,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015196.4"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000409663.7",
"protein_id": "ENSP00000386574.3",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 1609,
"cds_start": 578,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409663.7"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000886543.1",
"protein_id": "ENSP00000556606.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1609,
"cds_start": 578,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886543.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000939904.1",
"protein_id": "ENSP00000609963.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1609,
"cds_start": 578,
"cds_end": null,
"cds_length": 4830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939904.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000886548.1",
"protein_id": "ENSP00000556607.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1608,
"cds_start": 578,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886548.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000939912.1",
"protein_id": "ENSP00000609971.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1608,
"cds_start": 578,
"cds_end": null,
"cds_length": 4827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939912.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000971912.1",
"protein_id": "ENSP00000641971.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1598,
"cds_start": 578,
"cds_end": null,
"cds_length": 4797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971912.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000971910.1",
"protein_id": "ENSP00000641969.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1597,
"cds_start": 578,
"cds_end": null,
"cds_length": 4794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971910.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000939905.1",
"protein_id": "ENSP00000609964.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1596,
"cds_start": 578,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939905.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000971909.1",
"protein_id": "ENSP00000641968.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1596,
"cds_start": 578,
"cds_end": null,
"cds_length": 4791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971909.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Ser170Phe",
"transcript": "ENST00000939910.1",
"protein_id": "ENSP00000609969.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 1585,
"cds_start": 509,
"cds_end": null,
"cds_length": 4758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939910.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000886549.1",
"protein_id": "ENSP00000556608.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1584,
"cds_start": 578,
"cds_end": null,
"cds_length": 4755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886549.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000886550.1",
"protein_id": "ENSP00000556609.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1583,
"cds_start": 578,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886550.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000886551.1",
"protein_id": "ENSP00000556610.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1542,
"cds_start": 578,
"cds_end": null,
"cds_length": 4629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886551.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000939911.1",
"protein_id": "ENSP00000609970.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1541,
"cds_start": 578,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939911.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000939906.1",
"protein_id": "ENSP00000609965.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1540,
"cds_start": 578,
"cds_end": null,
"cds_length": 4623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939906.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000939903.1",
"protein_id": "ENSP00000609962.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1525,
"cds_start": 578,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939903.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000939909.1",
"protein_id": "ENSP00000609968.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1525,
"cds_start": 578,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939909.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM131L",
"gene_hgnc_id": 29146,
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Ser193Phe",
"transcript": "ENST00000886552.1",
"protein_id": "ENSP00000556611.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 1524,
"cds_start": 578,
"cds_end": null,
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"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}