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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: 17-48550756-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=48550756&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 48550756,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002146.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "NM_001384749.1",
"protein_id": "NP_001371678.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000498678.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384749.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000498678.6",
"protein_id": "ENSP00000420595.1",
"transcript_support_level": 2,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384749.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498678.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000311626.8",
"protein_id": "ENSP00000308252.4",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311626.8"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000470495.1",
"protein_id": "ENSP00000417207.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470495.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000476342.1",
"protein_id": "ENSP00000418892.1",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476342.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.472C>G",
"hgvs_p": "p.Pro158Ala",
"transcript": "ENST00000490677.1",
"protein_id": "ENSP00000449977.1",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 297,
"cds_start": 472,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490677.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "NM_001384747.1",
"protein_id": "NP_001371676.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384747.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "NM_002146.4",
"protein_id": "NP_002137.4",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002146.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000866120.1",
"protein_id": "ENSP00000536179.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866120.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000866121.1",
"protein_id": "ENSP00000536180.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866121.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000969628.1",
"protein_id": "ENSP00000639687.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969628.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000969629.1",
"protein_id": "ENSP00000639688.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969629.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.874C>G",
"hgvs_p": "p.Pro292Ala",
"transcript": "ENST00000969630.1",
"protein_id": "ENSP00000639689.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 431,
"cds_start": 874,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969630.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Pro219Ala",
"transcript": "NM_001330322.2",
"protein_id": "NP_001317251.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 358,
"cds_start": 655,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330322.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Pro219Ala",
"transcript": "NM_001384750.1",
"protein_id": "NP_001371679.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 358,
"cds_start": 655,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384750.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Pro219Ala",
"transcript": "ENST00000472863.5",
"protein_id": "ENSP00000419676.1",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 358,
"cds_start": 655,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472863.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.655C>G",
"hgvs_p": "p.Pro219Ala",
"transcript": "ENST00000489475.5",
"protein_id": "ENSP00000418729.1",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 358,
"cds_start": 655,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489475.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.478C>G",
"hgvs_p": "p.Pro160Ala",
"transcript": "NM_001330323.1",
"protein_id": "NP_001317252.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 299,
"cds_start": 478,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330323.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.478C>G",
"hgvs_p": "p.Pro160Ala",
"transcript": "ENST00000460160.5",
"protein_id": "ENSP00000418035.1",
"transcript_support_level": 5,
"aa_start": 160,
"aa_end": null,
"aa_length": 299,
"cds_start": 478,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460160.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.1315C>G",
"hgvs_p": "p.Pro439Ala",
"transcript": "XM_017024560.2",
"protein_id": "XP_016880049.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 578,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024560.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.1315C>G",
"hgvs_p": "p.Pro439Ala",
"transcript": "XM_047435899.1",
"protein_id": "XP_047291855.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 578,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435899.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"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": "HOXB3",
"gene_hgnc_id": 5114,
"hgvs_c": "c.1315C>G",
"hgvs_p": "p.Pro439Ala",
"transcript": "XM_047435900.1",
"protein_id": "XP_047291856.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 578,
"cds_start": 1315,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
],
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}