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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: 8-17653257-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=17653257&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 17653257,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001363057.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "NM_001363059.2",
"protein_id": "NP_001349988.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000693296.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363059.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000693296.1",
"protein_id": "ENSP00000509719.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001363059.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693296.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000262102.10",
"protein_id": "ENSP00000262102.6",
"transcript_support_level": 1,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262102.10"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.811G>C",
"hgvs_p": "p.Glu271Gln",
"transcript": "ENST00000297488.10",
"protein_id": "ENSP00000297488.6",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 436,
"cds_start": 811,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297488.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.*1061G>C",
"hgvs_p": null,
"transcript": "ENST00000520196.5",
"protein_id": "ENSP00000431016.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520196.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "n.*1061G>C",
"hgvs_p": null,
"transcript": "ENST00000520196.5",
"protein_id": "ENSP00000431016.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000520196.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "NM_001363057.2",
"protein_id": "NP_001349986.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363057.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "NM_001001924.3",
"protein_id": "NP_001001924.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001924.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "NM_001363058.2",
"protein_id": "NP_001349987.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363058.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "NM_001363061.2",
"protein_id": "NP_001349990.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363061.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000855900.1",
"protein_id": "ENSP00000525959.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855900.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000855902.1",
"protein_id": "ENSP00000525961.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855902.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000855903.1",
"protein_id": "ENSP00000525962.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855903.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000917856.1",
"protein_id": "ENSP00000587915.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917856.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000960149.1",
"protein_id": "ENSP00000630208.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960149.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000960150.1",
"protein_id": "ENSP00000630209.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960150.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000960151.1",
"protein_id": "ENSP00000630210.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960151.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000960152.1",
"protein_id": "ENSP00000630211.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960152.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000960155.1",
"protein_id": "ENSP00000630214.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960155.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3313G>C",
"hgvs_p": "p.Glu1105Gln",
"transcript": "ENST00000960154.1",
"protein_id": "ENSP00000630213.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3313,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960154.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3151G>C",
"hgvs_p": "p.Glu1051Gln",
"transcript": "NM_001363060.2",
"protein_id": "NP_001349989.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3151,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363060.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTUS1",
"gene_hgnc_id": 29789,
"hgvs_c": "c.3151G>C",
"hgvs_p": "p.Glu1051Gln",
"transcript": "ENST00000855901.1",
"protein_id": "ENSP00000525960.1",
"transcript_support_level": null,
"aa_start": 1051,
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"phenotype_combined": "not provided",
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}
],
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}