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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: 6-170317565-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=170317565&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 170317565,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001286380.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "NM_032448.3",
"protein_id": "NP_115824.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 910,
"cds_start": 175,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000476287.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032448.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000476287.4",
"protein_id": "ENSP00000417970.1",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 910,
"cds_start": 175,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032448.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000476287.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Ile82Val",
"transcript": "NM_001286380.2",
"protein_id": "NP_001273309.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 933,
"cds_start": 244,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286380.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.244A>G",
"hgvs_p": "p.Ile82Val",
"transcript": "ENST00000537664.5",
"protein_id": "ENSP00000440125.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 933,
"cds_start": 244,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537664.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Ile71Val",
"transcript": "NM_001286379.2",
"protein_id": "NP_001273308.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 922,
"cds_start": 211,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286379.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Ile71Val",
"transcript": "ENST00000630384.2",
"protein_id": "ENSP00000485745.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 922,
"cds_start": 211,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000630384.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000901518.1",
"protein_id": "ENSP00000571577.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 910,
"cds_start": 175,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901518.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000901520.1",
"protein_id": "ENSP00000571579.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 910,
"cds_start": 175,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901520.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000901522.1",
"protein_id": "ENSP00000571581.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 910,
"cds_start": 175,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901522.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000966364.1",
"protein_id": "ENSP00000636423.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 910,
"cds_start": 175,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966364.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000966365.1",
"protein_id": "ENSP00000636424.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 910,
"cds_start": 175,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966365.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000966367.1",
"protein_id": "ENSP00000636426.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 910,
"cds_start": 175,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966367.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000966373.1",
"protein_id": "ENSP00000636432.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 910,
"cds_start": 175,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966373.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000966369.1",
"protein_id": "ENSP00000636428.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 881,
"cds_start": 175,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966369.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000901519.1",
"protein_id": "ENSP00000571578.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 879,
"cds_start": 175,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901519.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000915624.1",
"protein_id": "ENSP00000585683.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 879,
"cds_start": 175,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915624.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000966372.1",
"protein_id": "ENSP00000636431.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 879,
"cds_start": 175,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966372.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000901517.1",
"protein_id": "ENSP00000571576.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 876,
"cds_start": 175,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901517.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000966371.1",
"protein_id": "ENSP00000636430.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 872,
"cds_start": 175,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966371.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000901521.1",
"protein_id": "ENSP00000571580.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 841,
"cds_start": 175,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901521.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000915628.1",
"protein_id": "ENSP00000585687.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 839,
"cds_start": 175,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915628.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM120B",
"gene_hgnc_id": 21109,
"hgvs_c": "c.175A>G",
"hgvs_p": "p.Ile59Val",
"transcript": "ENST00000966370.1",
"protein_id": "ENSP00000636429.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 828,
"cds_start": 175,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
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