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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: 10-95755766-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=95755766&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 95755766,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001164178.1",
"consequences": [
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.37+43773G>C",
"hgvs_p": null,
"transcript": "ENST00000453258.6",
"protein_id": "ENSP00000390955.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "NM_001164178.1",
"protein_id": "NP_001157650.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 522,
"cds_start": 52,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 12515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "ENST00000371207.8",
"protein_id": "ENSP00000360250.3",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 522,
"cds_start": 52,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "NM_001440935.1",
"protein_id": "NP_001427864.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 486,
"cds_start": 52,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 13830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "NM_001320916.1",
"protein_id": "NP_001307845.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 482,
"cds_start": 52,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 2163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "NM_001440936.1",
"protein_id": "NP_001427865.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 481,
"cds_start": 52,
"cds_end": null,
"cds_length": 1446,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 12392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.-181G>C",
"hgvs_p": null,
"transcript": "NM_001164181.1",
"protein_id": "NP_001157653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.-355G>C",
"hgvs_p": null,
"transcript": "NM_001312654.1",
"protein_id": "NP_001299583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.-181G>C",
"hgvs_p": null,
"transcript": "ENST00000543964.6",
"protein_id": "ENSP00000442968.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.-248G>C",
"hgvs_p": null,
"transcript": "NM_001440941.1",
"protein_id": "NP_001427870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "XM_047426027.1",
"protein_id": "XP_047281983.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 474,
"cds_start": 52,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "XM_047426028.1",
"protein_id": "XP_047281984.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 462,
"cds_start": 52,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.52G>C",
"hgvs_p": "p.Glu18Gln",
"transcript": "XM_017016963.2",
"protein_id": "XP_016872452.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 288,
"cds_start": 52,
"cds_end": null,
"cds_length": 867,
"cdna_start": 115,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.1681C>G",
"hgvs_p": null,
"transcript": "ENST00000416301.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "n.20G>C",
"hgvs_p": null,
"transcript": "ENST00000635677.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.947C>G",
"hgvs_p": null,
"transcript": "ENST00000669711.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.1702C>G",
"hgvs_p": null,
"transcript": "NR_038444.1",
"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": 4262,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.-181G>C",
"hgvs_p": null,
"transcript": "NM_001164181.1",
"protein_id": "NP_001157653.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12387,
"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": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.-355G>C",
"hgvs_p": null,
"transcript": "NM_001312654.1",
"protein_id": "NP_001299583.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.-181G>C",
"hgvs_p": null,
"transcript": "ENST00000543964.6",
"protein_id": "ENSP00000442968.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 402,
"cds_start": -4,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.-248G>C",
"hgvs_p": null,
"transcript": "NM_001440941.1",
"protein_id": "NP_001427870.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 372,
"cds_start": -4,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12364,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.37+43773G>C",
"hgvs_p": null,
"transcript": "NM_001098175.2",
"protein_id": "NP_001091645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": -4,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 12630,
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENTPD1",
"gene_hgnc_id": 3363,
"hgvs_c": "c.37+43773G>C",
"hgvs_p": null,
"transcript": "NM_001440933.1",
"protein_id": "NP_001427862.1",
"transcript_support_level": null,
"aa_start": null,
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"alphamissense_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}