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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: 10-68122098-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68122098&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68122098,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000358913.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Arg220Arg",
"transcript": "NM_032578.4",
"protein_id": "NP_115967.2",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1320,
"cds_start": 660,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": "ENST00000358913.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Arg220Arg",
"transcript": "ENST00000358913.10",
"protein_id": "ENSP00000351790.5",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 1320,
"cds_start": 660,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": "NM_032578.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Arg220Arg",
"transcript": "ENST00000540630.6",
"protein_id": "ENSP00000441668.3",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 1338,
"cds_start": 660,
"cds_end": null,
"cds_length": 4017,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Arg220Arg",
"transcript": "ENST00000613327.5",
"protein_id": "ENSP00000480757.2",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 1320,
"cds_start": 660,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 5392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.77+15297G>A",
"hgvs_p": null,
"transcript": "ENST00000354393.7",
"protein_id": "ENSP00000346369.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1045,
"cds_start": -4,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Arg220Arg",
"transcript": "NM_001256267.2",
"protein_id": "NP_001243196.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1320,
"cds_start": 660,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Arg220Arg",
"transcript": "ENST00000373675.4",
"protein_id": "ENSP00000362779.4",
"transcript_support_level": 2,
"aa_start": 220,
"aa_end": null,
"aa_length": 658,
"cds_start": 660,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 2167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.732G>A",
"hgvs_p": "p.Arg244Arg",
"transcript": "ENST00000685006.1",
"protein_id": "ENSP00000510318.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 509,
"cds_start": 732,
"cds_end": null,
"cds_length": 1531,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Arg220Arg",
"transcript": "ENST00000685154.1",
"protein_id": "ENSP00000509251.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 485,
"cds_start": 660,
"cds_end": null,
"cds_length": 1459,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Arg220Arg",
"transcript": "ENST00000692979.1",
"protein_id": "ENSP00000509849.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 485,
"cds_start": 660,
"cds_end": null,
"cds_length": 1459,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Arg246Arg",
"transcript": "XM_017016833.2",
"protein_id": "XP_016872322.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 1346,
"cds_start": 738,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 5965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.738G>A",
"hgvs_p": "p.Arg246Arg",
"transcript": "XM_047425876.1",
"protein_id": "XP_047281832.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 1346,
"cds_start": 738,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.660G>A",
"hgvs_p": "p.Arg220Arg",
"transcript": "XM_017016834.3",
"protein_id": "XP_016872323.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1320,
"cds_start": 660,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.897G>A",
"hgvs_p": null,
"transcript": "ENST00000685060.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*671G>A",
"hgvs_p": null,
"transcript": "ENST00000685627.1",
"protein_id": "ENSP00000508637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*909G>A",
"hgvs_p": null,
"transcript": "ENST00000687705.1",
"protein_id": "ENSP00000509639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.660G>A",
"hgvs_p": null,
"transcript": "ENST00000688812.1",
"protein_id": "ENSP00000510658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.889G>A",
"hgvs_p": null,
"transcript": "ENST00000689218.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.660G>A",
"hgvs_p": null,
"transcript": "ENST00000690544.1",
"protein_id": "ENSP00000508989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*909G>A",
"hgvs_p": null,
"transcript": "ENST00000692038.1",
"protein_id": "ENSP00000509220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.897G>A",
"hgvs_p": null,
"transcript": "NR_045663.4",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.-463G>A",
"hgvs_p": null,
"transcript": "NM_001256268.2",
"protein_id": "NP_001243197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1026,
"cds_start": -4,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*671G>A",
"hgvs_p": null,
"transcript": "ENST00000685627.1",
"protein_id": "ENSP00000508637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.655,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000358913.10",
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],
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],
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1KK,MYPN-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "Dilated cardiomyopathy 1KK|Cardiovascular phenotype|not specified|not provided|MYPN-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}