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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: 13-41252973-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=41252973&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 41252973,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004294.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "NM_004294.4",
"protein_id": "NP_004285.2",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379480.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004294.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000379480.9",
"protein_id": "ENSP00000368793.3",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004294.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379480.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "n.*233G>A",
"hgvs_p": null,
"transcript": "ENST00000239852.10",
"protein_id": "ENSP00000481161.1",
"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": "ENST00000239852.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "n.*228G>A",
"hgvs_p": null,
"transcript": "ENST00000497679.6",
"protein_id": "ENSP00000484414.1",
"transcript_support_level": 3,
"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": "ENST00000497679.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "n.*233G>A",
"hgvs_p": null,
"transcript": "ENST00000239852.10",
"protein_id": "ENSP00000481161.1",
"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": "ENST00000239852.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "n.*228G>A",
"hgvs_p": null,
"transcript": "ENST00000497679.6",
"protein_id": "ENSP00000484414.1",
"transcript_support_level": 3,
"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": "ENST00000497679.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Met",
"transcript": "ENST00000948294.1",
"protein_id": "ENSP00000618353.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 487,
"cds_start": 691,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948294.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Met",
"transcript": "ENST00000948296.1",
"protein_id": "ENSP00000618355.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 487,
"cds_start": 691,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948296.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "NM_001354073.1",
"protein_id": "NP_001341002.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354073.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "NM_001354074.1",
"protein_id": "NP_001341003.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354074.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "NM_001354076.1",
"protein_id": "NP_001341005.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354076.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000379477.5",
"protein_id": "ENSP00000368790.1",
"transcript_support_level": 2,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379477.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897168.1",
"protein_id": "ENSP00000567227.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897168.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897169.1",
"protein_id": "ENSP00000567228.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897169.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897170.1",
"protein_id": "ENSP00000567229.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897170.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897171.1",
"protein_id": "ENSP00000567230.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897171.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897174.1",
"protein_id": "ENSP00000567233.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897174.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897175.1",
"protein_id": "ENSP00000567234.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897175.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897176.1",
"protein_id": "ENSP00000567235.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897176.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897177.1",
"protein_id": "ENSP00000567236.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897177.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897178.1",
"protein_id": "ENSP00000567237.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897178.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTRF1",
"gene_hgnc_id": 7469,
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"transcript": "ENST00000897179.1",
"protein_id": "ENSP00000567238.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 445,
"cds_start": 565,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897179.1"
},
{
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