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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: 1-156232382-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156232382&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156232382,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001199661.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "NM_007221.4",
"protein_id": "NP_009152.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 205,
"cds_start": 224,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368277.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007221.4"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000368277.3",
"protein_id": "ENSP00000357260.3",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 205,
"cds_start": 224,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007221.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368277.3"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000490491.5",
"protein_id": "ENSP00000475561.1",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 211,
"cds_start": 224,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490491.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000320139.5",
"protein_id": "ENSP00000324909.5",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 175,
"cds_start": 224,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320139.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "n.*590A>T",
"hgvs_p": null,
"transcript": "ENST00000466489.1",
"protein_id": "ENSP00000476770.1",
"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": "ENST00000466489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "n.*590A>T",
"hgvs_p": null,
"transcript": "ENST00000466489.1",
"protein_id": "ENSP00000476770.1",
"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": "ENST00000466489.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "n.171-1246A>T",
"hgvs_p": null,
"transcript": "ENST00000606952.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000606952.5"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000868456.1",
"protein_id": "ENSP00000538515.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 257,
"cds_start": 224,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868456.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.329A>T",
"hgvs_p": "p.Gln110Leu",
"transcript": "ENST00000868459.1",
"protein_id": "ENSP00000538518.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 240,
"cds_start": 329,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868459.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.296A>T",
"hgvs_p": "p.Gln99Leu",
"transcript": "ENST00000868460.1",
"protein_id": "ENSP00000538519.1",
"transcript_support_level": null,
"aa_start": 99,
"aa_end": null,
"aa_length": 229,
"cds_start": 296,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868460.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "NM_001199661.1",
"protein_id": "NP_001186590.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 220,
"cds_start": 224,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199661.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000368276.8",
"protein_id": "ENSP00000357259.4",
"transcript_support_level": 3,
"aa_start": 75,
"aa_end": null,
"aa_length": 220,
"cds_start": 224,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368276.8"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000868458.1",
"protein_id": "ENSP00000538517.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 220,
"cds_start": 224,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868458.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "NM_001199662.1",
"protein_id": "NP_001186591.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 211,
"cds_start": 224,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199662.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "NM_001393909.1",
"protein_id": "NP_001380838.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 204,
"cds_start": 224,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393909.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000960528.1",
"protein_id": "ENSP00000630587.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 204,
"cds_start": 224,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960528.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000960527.1",
"protein_id": "ENSP00000630586.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 202,
"cds_start": 224,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960527.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "NM_001199653.2",
"protein_id": "NP_001186582.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 180,
"cds_start": 224,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199653.2"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000368279.7",
"protein_id": "ENSP00000357262.3",
"transcript_support_level": 2,
"aa_start": 75,
"aa_end": null,
"aa_length": 180,
"cds_start": 224,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368279.7"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "NM_001393911.1",
"protein_id": "NP_001380840.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 179,
"cds_start": 224,
"cds_end": null,
"cds_length": 540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393911.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1",
"gene_hgnc_id": 9112,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "ENST00000920598.1",
"protein_id": "ENSP00000590657.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 178,
"cds_start": 224,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920598.1"
},
{
"aa_ref": "Q",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMF1-BGLAP",
"gene_hgnc_id": 42953,
"hgvs_c": "c.224A>T",
"hgvs_p": "p.Gln75Leu",
"transcript": "NM_001199663.1",
"protein_id": "NP_001186592.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 175,
"cds_start": 224,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
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}