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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: 3-121808979-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=121808979&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 121808979,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001023570.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "NM_001023570.4",
"protein_id": "NP_001018864.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 598,
"cds_start": 424,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310864.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001023570.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000310864.11",
"protein_id": "ENSP00000311505.6",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 598,
"cds_start": 424,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001023570.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310864.11"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000349820.10",
"protein_id": "ENSP00000323756.7",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 465,
"cds_start": 424,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349820.10"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.496T>C",
"hgvs_p": "p.Phe166Leu",
"transcript": "ENST00000923631.1",
"protein_id": "ENSP00000593690.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 622,
"cds_start": 496,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923631.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000965827.1",
"protein_id": "ENSP00000635886.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 604,
"cds_start": 424,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965827.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "NM_001319107.2",
"protein_id": "NP_001306036.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 598,
"cds_start": 424,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319107.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000908847.1",
"protein_id": "ENSP00000578906.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 598,
"cds_start": 424,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908847.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000923629.1",
"protein_id": "ENSP00000593688.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 598,
"cds_start": 424,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923629.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000923632.1",
"protein_id": "ENSP00000593691.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 598,
"cds_start": 424,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923632.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000965828.1",
"protein_id": "ENSP00000635887.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 598,
"cds_start": 424,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965828.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000923630.1",
"protein_id": "ENSP00000593689.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 571,
"cds_start": 424,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923630.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "ENST00000965826.1",
"protein_id": "ENSP00000635885.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 471,
"cds_start": 424,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965826.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "NM_001023571.4",
"protein_id": "NP_001018865.2",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 465,
"cds_start": 424,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001023571.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "XM_005247911.5",
"protein_id": "XP_005247968.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 474,
"cds_start": 424,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247911.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "XM_047449252.1",
"protein_id": "XP_047305208.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 378,
"cds_start": 424,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449252.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "XM_017007539.3",
"protein_id": "XP_016863028.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 341,
"cds_start": 424,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007539.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu",
"transcript": "XM_047449253.1",
"protein_id": "XP_047305209.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 303,
"cds_start": 424,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449253.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.-129T>C",
"hgvs_p": null,
"transcript": "ENST00000460108.5",
"protein_id": "ENSP00000419168.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 142,
"cds_start": null,
"cds_end": null,
"cds_length": 430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460108.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.-129T>C",
"hgvs_p": null,
"transcript": "XM_047449250.1",
"protein_id": "XP_047305206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449250.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.-65-1536T>C",
"hgvs_p": null,
"transcript": "ENST00000498104.1",
"protein_id": "ENSP00000417832.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 83,
"cds_start": null,
"cds_end": null,
"cds_length": 254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000498104.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "c.-65-1536T>C",
"hgvs_p": null,
"transcript": "XM_047449251.1",
"protein_id": "XP_047305207.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": null,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449251.1"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "n.424T>C",
"hgvs_p": null,
"transcript": "ENST00000393650.7",
"protein_id": "ENSP00000377261.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000393650.7"
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"hgvs_c": "n.619T>C",
"hgvs_p": null,
"transcript": "NR_134968.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_134968.2"
}
],
"gene_symbol": "IQCB1",
"gene_hgnc_id": 28949,
"dbsnp": "rs11926958",
"frequency_reference_population": 0.0018740024,
"hom_count_reference_population": 44,
"allele_count_reference_population": 3015,
"gnomad_exomes_af": 0.0010008,
"gnomad_genomes_af": 0.0102421,
"gnomad_exomes_ac": 1458,
"gnomad_genomes_ac": 1557,
"gnomad_exomes_homalt": 25,
"gnomad_genomes_homalt": 19,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0062329769134521484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.123,
"revel_prediction": "Benign",
"alphamissense_score": 0.6932,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.261,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001023570.4",
"gene_symbol": "IQCB1",
"hgnc_id": 28949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.424T>C",
"hgvs_p": "p.Phe142Leu"
}
],
"clinvar_disease": "Nephronophthisis,Senior-Loken syndrome 5,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"phenotype_combined": "Nephronophthisis|not specified|Senior-Loken syndrome 5|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}