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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: 17-42125841-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42125841&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42125841,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001252039.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "NM_004583.4",
"protein_id": "NP_004574.2",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346213.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004583.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000346213.9",
"protein_id": "ENSP00000345689.5",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004583.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346213.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "ENST00000547517.5",
"protein_id": "ENSP00000447053.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 249,
"cds_start": 692,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547517.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000393860.7",
"protein_id": "ENSP00000377440.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393860.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267261",
"gene_hgnc_id": null,
"hgvs_c": "c.441+2420G>A",
"hgvs_p": null,
"transcript": "ENST00000592574.1",
"protein_id": "ENSP00000468367.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592574.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.692G>A",
"hgvs_p": "p.Arg231Gln",
"transcript": "NM_001252039.2",
"protein_id": "NP_001238968.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 249,
"cds_start": 692,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252039.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "NM_201434.3",
"protein_id": "NP_958842.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201434.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909835.1",
"protein_id": "ENSP00000579894.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909835.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909836.1",
"protein_id": "ENSP00000579895.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909836.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909837.1",
"protein_id": "ENSP00000579896.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909837.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909838.1",
"protein_id": "ENSP00000579897.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909838.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909839.1",
"protein_id": "ENSP00000579898.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909839.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909840.1",
"protein_id": "ENSP00000579899.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909840.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909841.1",
"protein_id": "ENSP00000579900.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909841.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909842.1",
"protein_id": "ENSP00000579901.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909842.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909843.1",
"protein_id": "ENSP00000579902.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909843.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909844.1",
"protein_id": "ENSP00000579903.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909844.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909845.1",
"protein_id": "ENSP00000579904.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909845.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909846.1",
"protein_id": "ENSP00000579905.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909846.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909847.1",
"protein_id": "ENSP00000579906.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909847.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909848.1",
"protein_id": "ENSP00000579908.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909848.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB5C",
"gene_hgnc_id": 9785,
"hgvs_c": "c.593G>A",
"hgvs_p": "p.Arg198Gln",
"transcript": "ENST00000909851.1",
"protein_id": "ENSP00000579910.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 216,
"cds_start": 593,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}