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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: 18-79410903-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=79410903&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 79410903,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000427363.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"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": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "NM_001278669.2",
"protein_id": "NP_001265598.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 943,
"cds_start": 628,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": "ENST00000427363.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"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": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "ENST00000427363.7",
"protein_id": "ENSP00000389377.2",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 943,
"cds_start": 628,
"cds_end": null,
"cds_length": 2832,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": "NM_001278669.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "ENST00000329101.8",
"protein_id": "ENSP00000327850.3",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 930,
"cds_start": 589,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "ENST00000253506.9",
"protein_id": "ENSP00000253506.5",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 825,
"cds_start": 628,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 4642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "ENST00000318065.9",
"protein_id": "ENSP00000316553.5",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 812,
"cds_start": 589,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "ENST00000591814.5",
"protein_id": "ENSP00000466194.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 716,
"cds_start": 628,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "ENST00000542384.5",
"protein_id": "ENSP00000442435.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 713,
"cds_start": 628,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 2142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "ENST00000592223.5",
"protein_id": "ENSP00000467181.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 703,
"cds_start": 589,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "ENST00000586434.1",
"protein_id": "ENSP00000466489.1",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 700,
"cds_start": 589,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 2103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "ENST00000587635.5",
"protein_id": "ENSP00000468111.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 639,
"cds_start": 628,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2195,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.-191+14552G>A",
"hgvs_p": null,
"transcript": "ENST00000397790.6",
"protein_id": "ENSP00000380892.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "NM_172387.3",
"protein_id": "NP_765975.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 930,
"cds_start": 589,
"cds_end": null,
"cds_length": 2793,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"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": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "NM_006162.5",
"protein_id": "NP_006153.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 825,
"cds_start": 628,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "NM_172389.3",
"protein_id": "NP_765977.1",
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"aa_start": 197,
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"aa_length": 812,
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"cdna_start": 682,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "NM_172390.3",
"protein_id": "NP_765978.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 716,
"cds_start": 628,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "NM_001278670.2",
"protein_id": "NP_001265599.1",
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"aa_start": 210,
"aa_end": null,
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"cds_start": 628,
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"cdna_start": 923,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "NM_001278675.2",
"protein_id": "NP_001265604.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 703,
"cds_start": 589,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 4579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "NM_001278672.2",
"protein_id": "NP_001265601.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 700,
"cds_start": 589,
"cds_end": null,
"cds_length": 2103,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met",
"transcript": "XM_017025783.3",
"protein_id": "XP_016881272.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 639,
"cds_start": 628,
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"cdna_start": 923,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Val197Met",
"transcript": "XM_047437538.1",
"protein_id": "XP_047293494.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 626,
"cds_start": 589,
"cds_end": null,
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"cdna_start": 682,
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"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.-191+10424G>A",
"hgvs_p": null,
"transcript": "NM_001278673.2",
"protein_id": "NP_001265602.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3533,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.-191+10424G>A",
"hgvs_p": null,
"transcript": "ENST00000545796.5",
"protein_id": "ENSP00000439992.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3558,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "c.-191+14552G>A",
"hgvs_p": null,
"transcript": "NM_172388.3",
"protein_id": "NP_765976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 353,
"cds_start": -4,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"hgvs_c": "n.88+10424G>A",
"hgvs_p": null,
"transcript": "ENST00000590313.5",
"protein_id": "ENSP00000467615.1",
"transcript_support_level": 2,
"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": 1919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NFATC1",
"gene_hgnc_id": 7775,
"dbsnp": "rs62096875",
"frequency_reference_population": 0.0009382356,
"hom_count_reference_population": 2,
"allele_count_reference_population": 1509,
"gnomad_exomes_af": 0.000964177,
"gnomad_genomes_af": 0.00069,
"gnomad_exomes_ac": 1404,
"gnomad_genomes_ac": 105,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1777649223804474,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.419,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.21,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.638,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000427363.7",
"gene_symbol": "NFATC1",
"hgnc_id": 7775,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.628G>A",
"hgvs_p": "p.Val210Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}