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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: 8-143921861-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143921861&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143921861,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_201380.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7960T>G",
"hgvs_p": "p.Ser2654Ala",
"transcript": "NM_201384.3",
"protein_id": "NP_958786.1",
"transcript_support_level": null,
"aa_start": 2654,
"aa_end": null,
"aa_length": 4547,
"cds_start": 7960,
"cds_end": null,
"cds_length": 13644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345136.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201384.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7960T>G",
"hgvs_p": "p.Ser2654Ala",
"transcript": "ENST00000345136.8",
"protein_id": "ENSP00000344848.3",
"transcript_support_level": 1,
"aa_start": 2654,
"aa_end": null,
"aa_length": 4547,
"cds_start": 7960,
"cds_end": null,
"cds_length": 13644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201384.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345136.8"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7918T>G",
"hgvs_p": "p.Ser2640Ala",
"transcript": "NM_201378.4",
"protein_id": "NP_958780.1",
"transcript_support_level": null,
"aa_start": 2640,
"aa_end": null,
"aa_length": 4533,
"cds_start": 7918,
"cds_end": null,
"cds_length": 13602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000356346.7",
"biotype": "protein_coding",
"feature": "NM_201378.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7918T>G",
"hgvs_p": "p.Ser2640Ala",
"transcript": "ENST00000356346.7",
"protein_id": "ENSP00000348702.3",
"transcript_support_level": 1,
"aa_start": 2640,
"aa_end": null,
"aa_length": 4533,
"cds_start": 7918,
"cds_end": null,
"cds_length": 13602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_201378.4",
"biotype": "protein_coding",
"feature": "ENST00000356346.7"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8371T>G",
"hgvs_p": "p.Ser2791Ala",
"transcript": "ENST00000322810.8",
"protein_id": "ENSP00000323856.4",
"transcript_support_level": 1,
"aa_start": 2791,
"aa_end": null,
"aa_length": 4684,
"cds_start": 8371,
"cds_end": null,
"cds_length": 14055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322810.8"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8041T>G",
"hgvs_p": "p.Ser2681Ala",
"transcript": "ENST00000436759.6",
"protein_id": "ENSP00000388180.2",
"transcript_support_level": 1,
"aa_start": 2681,
"aa_end": null,
"aa_length": 4574,
"cds_start": 8041,
"cds_end": null,
"cds_length": 13725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436759.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7972T>G",
"hgvs_p": "p.Ser2658Ala",
"transcript": "ENST00000357649.6",
"protein_id": "ENSP00000350277.2",
"transcript_support_level": 1,
"aa_start": 2658,
"aa_end": null,
"aa_length": 4551,
"cds_start": 7972,
"cds_end": null,
"cds_length": 13656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357649.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7960T>G",
"hgvs_p": "p.Ser2654Ala",
"transcript": "ENST00000354589.7",
"protein_id": "ENSP00000346602.3",
"transcript_support_level": 1,
"aa_start": 2654,
"aa_end": null,
"aa_length": 4547,
"cds_start": 7960,
"cds_end": null,
"cds_length": 13644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354589.7"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7894T>G",
"hgvs_p": "p.Ser2632Ala",
"transcript": "ENST00000354958.6",
"protein_id": "ENSP00000347044.2",
"transcript_support_level": 1,
"aa_start": 2632,
"aa_end": null,
"aa_length": 4525,
"cds_start": 7894,
"cds_end": null,
"cds_length": 13578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354958.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7864T>G",
"hgvs_p": "p.Ser2622Ala",
"transcript": "ENST00000398774.6",
"protein_id": "ENSP00000381756.2",
"transcript_support_level": 1,
"aa_start": 2622,
"aa_end": null,
"aa_length": 4515,
"cds_start": 7864,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398774.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8371T>G",
"hgvs_p": "p.Ser2791Ala",
"transcript": "NM_201380.4",
"protein_id": "NP_958782.1",
"transcript_support_level": null,
"aa_start": 2791,
"aa_end": null,
"aa_length": 4684,
"cds_start": 8371,
"cds_end": null,
"cds_length": 14055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201380.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8092T>G",
"hgvs_p": "p.Ser2698Ala",
"transcript": "ENST00000528025.6",
"protein_id": "ENSP00000437303.2",
"transcript_support_level": 5,
"aa_start": 2698,
"aa_end": null,
"aa_length": 4591,
"cds_start": 8092,
"cds_end": null,
"cds_length": 13776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528025.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8041T>G",
"hgvs_p": "p.Ser2681Ala",
"transcript": "NM_000445.5",
"protein_id": "NP_000436.2",
"transcript_support_level": null,
"aa_start": 2681,
"aa_end": null,
"aa_length": 4574,
"cds_start": 8041,
"cds_end": null,
"cds_length": 13725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000445.5"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8029T>G",
"hgvs_p": "p.Ser2677Ala",
"transcript": "ENST00000527096.5",
"protein_id": "ENSP00000434583.1",
"transcript_support_level": 5,
"aa_start": 2677,
"aa_end": null,
"aa_length": 4570,
"cds_start": 8029,
"cds_end": null,
"cds_length": 13713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527096.5"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.8011T>G",
"hgvs_p": "p.Ser2671Ala",
"transcript": "ENST00000685198.1",
"protein_id": "ENSP00000510528.1",
"transcript_support_level": null,
"aa_start": 2671,
"aa_end": null,
"aa_length": 4564,
"cds_start": 8011,
"cds_end": null,
"cds_length": 13695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685198.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7972T>G",
"hgvs_p": "p.Ser2658Ala",
"transcript": "NM_201383.3",
"protein_id": "NP_958785.1",
"transcript_support_level": null,
"aa_start": 2658,
"aa_end": null,
"aa_length": 4551,
"cds_start": 7972,
"cds_end": null,
"cds_length": 13656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201383.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7960T>G",
"hgvs_p": "p.Ser2654Ala",
"transcript": "NM_201382.4",
"protein_id": "NP_958784.1",
"transcript_support_level": null,
"aa_start": 2654,
"aa_end": null,
"aa_length": 4547,
"cds_start": 7960,
"cds_end": null,
"cds_length": 13644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201382.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7894T>G",
"hgvs_p": "p.Ser2632Ala",
"transcript": "NM_201379.3",
"protein_id": "NP_958781.1",
"transcript_support_level": null,
"aa_start": 2632,
"aa_end": null,
"aa_length": 4525,
"cds_start": 7894,
"cds_end": null,
"cds_length": 13578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201379.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7891T>G",
"hgvs_p": "p.Ser2631Ala",
"transcript": "ENST00000693060.1",
"protein_id": "ENSP00000510329.1",
"transcript_support_level": null,
"aa_start": 2631,
"aa_end": null,
"aa_length": 4524,
"cds_start": 7891,
"cds_end": null,
"cds_length": 13575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693060.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7864T>G",
"hgvs_p": "p.Ser2622Ala",
"transcript": "NM_201381.3",
"protein_id": "NP_958783.1",
"transcript_support_level": null,
"aa_start": 2622,
"aa_end": null,
"aa_length": 4515,
"cds_start": 7864,
"cds_end": null,
"cds_length": 13548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201381.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.7678T>G",
"hgvs_p": "p.Ser2560Ala",
"transcript": "ENST00000687971.1",
"protein_id": "ENSP00000510788.1",
"transcript_support_level": null,
"aa_start": 2560,
"aa_end": null,
"aa_length": 4453,
"cds_start": 7678,
"cds_end": null,
"cds_length": 13362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687971.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEC",
"gene_hgnc_id": 9069,
"hgvs_c": "c.4660T>G",
"hgvs_p": "p.Ser1554Ala",
"transcript": "NM_001410941.1",
"protein_id": "NP_001397870.1",
"transcript_support_level": null,
"aa_start": 1554,
"aa_end": null,
"aa_length": 3447,
"cds_start": 4660,
"cds_end": null,
"cds_length": 10344,
"cdna_start": null,
"cdna_end": null,
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}