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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: 19-8430677-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8430677&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8430677,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016496.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "NM_001005415.2",
"protein_id": "NP_001005415.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215555.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005415.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000215555.7",
"protein_id": "ENSP00000215555.2",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001005415.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215555.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000602117.1",
"protein_id": "ENSP00000471536.1",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602117.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.512C>G",
"hgvs_p": "p.Pro171Arg",
"transcript": "ENST00000860161.1",
"protein_id": "ENSP00000530220.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 286,
"cds_start": 512,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860161.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860154.1",
"protein_id": "ENSP00000530213.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 256,
"cds_start": 392,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860154.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860156.1",
"protein_id": "ENSP00000530215.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 256,
"cds_start": 392,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860156.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860165.1",
"protein_id": "ENSP00000530224.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 256,
"cds_start": 392,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860165.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "NM_001369776.1",
"protein_id": "NP_001356705.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369776.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "NM_001369777.1",
"protein_id": "NP_001356706.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369777.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "NM_001369778.1",
"protein_id": "NP_001356707.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369778.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "NM_001369779.1",
"protein_id": "NP_001356708.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369779.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "NM_016496.5",
"protein_id": "NP_057580.3",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016496.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860152.1",
"protein_id": "ENSP00000530211.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860152.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860153.1",
"protein_id": "ENSP00000530212.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860153.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860157.1",
"protein_id": "ENSP00000530216.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860157.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860158.1",
"protein_id": "ENSP00000530217.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860158.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860159.1",
"protein_id": "ENSP00000530218.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860159.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860160.1",
"protein_id": "ENSP00000530219.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860160.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860162.1",
"protein_id": "ENSP00000530221.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860162.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860163.1",
"protein_id": "ENSP00000530222.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860163.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000860164.1",
"protein_id": "ENSP00000530223.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860164.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARCHF2",
"gene_hgnc_id": 28038,
"hgvs_c": "c.392C>G",
"hgvs_p": "p.Pro131Arg",
"transcript": "ENST00000961605.1",
"protein_id": "ENSP00000631664.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 246,
"cds_start": 392,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961605.1"
},
{
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}
],
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}