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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: 16-15602020-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15602020&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15602020,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014647.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4597G>A",
"hgvs_p": "p.Val1533Met",
"transcript": "NM_014647.4",
"protein_id": "NP_055462.2",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4597,
"cds_end": null,
"cds_length": 5229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396368.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014647.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4597G>A",
"hgvs_p": "p.Val1533Met",
"transcript": "ENST00000396368.8",
"protein_id": "ENSP00000379654.3",
"transcript_support_level": 1,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4597,
"cds_end": null,
"cds_length": 5229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014647.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396368.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4597G>A",
"hgvs_p": "p.Val1533Met",
"transcript": "ENST00000551742.5",
"protein_id": "ENSP00000450309.1",
"transcript_support_level": 1,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4597,
"cds_end": null,
"cds_length": 5229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551742.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4588G>A",
"hgvs_p": "p.Val1530Met",
"transcript": "ENST00000548025.5",
"protein_id": "ENSP00000449376.1",
"transcript_support_level": 1,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4588,
"cds_end": null,
"cds_length": 5220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548025.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4600G>A",
"hgvs_p": "p.Val1534Met",
"transcript": "ENST00000892734.1",
"protein_id": "ENSP00000562793.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4600,
"cds_end": null,
"cds_length": 5232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892734.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4597G>A",
"hgvs_p": "p.Val1533Met",
"transcript": "NM_001184998.2",
"protein_id": "NP_001171927.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1742,
"cds_start": 4597,
"cds_end": null,
"cds_length": 5229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184998.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4594G>A",
"hgvs_p": "p.Val1532Met",
"transcript": "ENST00000892732.1",
"protein_id": "ENSP00000562791.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4594,
"cds_end": null,
"cds_length": 5226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892732.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4594G>A",
"hgvs_p": "p.Val1532Met",
"transcript": "ENST00000912644.1",
"protein_id": "ENSP00000582703.1",
"transcript_support_level": null,
"aa_start": 1532,
"aa_end": null,
"aa_length": 1741,
"cds_start": 4594,
"cds_end": null,
"cds_length": 5226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912644.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4588G>A",
"hgvs_p": "p.Val1530Met",
"transcript": "NM_001184999.2",
"protein_id": "NP_001171928.1",
"transcript_support_level": null,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1739,
"cds_start": 4588,
"cds_end": null,
"cds_length": 5220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184999.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4570G>A",
"hgvs_p": "p.Val1524Met",
"transcript": "ENST00000892737.1",
"protein_id": "ENSP00000562796.1",
"transcript_support_level": null,
"aa_start": 1524,
"aa_end": null,
"aa_length": 1733,
"cds_start": 4570,
"cds_end": null,
"cds_length": 5202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892737.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4567G>A",
"hgvs_p": "p.Val1523Met",
"transcript": "ENST00000912645.1",
"protein_id": "ENSP00000582704.1",
"transcript_support_level": null,
"aa_start": 1523,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4567,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912645.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4177G>A",
"hgvs_p": "p.Val1393Met",
"transcript": "ENST00000892740.1",
"protein_id": "ENSP00000562799.1",
"transcript_support_level": null,
"aa_start": 1393,
"aa_end": null,
"aa_length": 1602,
"cds_start": 4177,
"cds_end": null,
"cds_length": 4809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892740.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4168G>A",
"hgvs_p": "p.Val1390Met",
"transcript": "ENST00000892736.1",
"protein_id": "ENSP00000562795.1",
"transcript_support_level": null,
"aa_start": 1390,
"aa_end": null,
"aa_length": 1599,
"cds_start": 4168,
"cds_end": null,
"cds_length": 4800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892736.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4141G>A",
"hgvs_p": "p.Val1381Met",
"transcript": "ENST00000892738.1",
"protein_id": "ENSP00000562797.1",
"transcript_support_level": null,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4141,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892738.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4102G>A",
"hgvs_p": "p.Val1368Met",
"transcript": "ENST00000540441.6",
"protein_id": "ENSP00000439819.2",
"transcript_support_level": 5,
"aa_start": 1368,
"aa_end": null,
"aa_length": 1577,
"cds_start": 4102,
"cds_end": null,
"cds_length": 4734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540441.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4063G>A",
"hgvs_p": "p.Val1355Met",
"transcript": "ENST00000892739.1",
"protein_id": "ENSP00000562798.1",
"transcript_support_level": null,
"aa_start": 1355,
"aa_end": null,
"aa_length": 1564,
"cds_start": 4063,
"cds_end": null,
"cds_length": 4695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892739.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4060G>A",
"hgvs_p": "p.Val1354Met",
"transcript": "ENST00000892733.1",
"protein_id": "ENSP00000562792.1",
"transcript_support_level": null,
"aa_start": 1354,
"aa_end": null,
"aa_length": 1563,
"cds_start": 4060,
"cds_end": null,
"cds_length": 4692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892733.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4057G>A",
"hgvs_p": "p.Val1353Met",
"transcript": "ENST00000912641.1",
"protein_id": "ENSP00000582700.1",
"transcript_support_level": null,
"aa_start": 1353,
"aa_end": null,
"aa_length": 1562,
"cds_start": 4057,
"cds_end": null,
"cds_length": 4689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912641.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4033G>A",
"hgvs_p": "p.Val1345Met",
"transcript": "ENST00000912642.1",
"protein_id": "ENSP00000582701.1",
"transcript_support_level": null,
"aa_start": 1345,
"aa_end": null,
"aa_length": 1554,
"cds_start": 4033,
"cds_end": null,
"cds_length": 4665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912642.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4030G>A",
"hgvs_p": "p.Val1344Met",
"transcript": "ENST00000912643.1",
"protein_id": "ENSP00000582702.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1553,
"cds_start": 4030,
"cds_end": null,
"cds_length": 4662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912643.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.3604G>A",
"hgvs_p": "p.Val1202Met",
"transcript": "ENST00000892735.1",
"protein_id": "ENSP00000562794.1",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1411,
"cds_start": 3604,
"cds_end": null,
"cds_length": 4236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892735.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MARF1",
"gene_hgnc_id": 29562,
"hgvs_c": "c.4600G>A",
"hgvs_p": "p.Val1534Met",
"transcript": "XM_005255704.2",
"protein_id": "XP_005255761.1",
"transcript_support_level": null,
"aa_start": 1534,
"aa_end": null,
"aa_length": 1743,
"cds_start": 4600,
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{
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{
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{
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{
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"biotype": "pseudogene",
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
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"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_014647.4",
"gene_symbol": "MARF1",
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"effects": [
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],
"inheritance_mode": "AD",
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},
{
"score": -2,
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],
"verdict": "Likely_benign",
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"gene_symbol": "BMERB1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}