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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: 16-11679449-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11679449&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11679449,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001303447.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2623C>G",
"hgvs_p": "p.Arg875Gly",
"transcript": "NM_015914.7",
"protein_id": "NP_056998.4",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 958,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283033.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015914.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2623C>G",
"hgvs_p": "p.Arg875Gly",
"transcript": "ENST00000283033.10",
"protein_id": "ENSP00000283033.5",
"transcript_support_level": 2,
"aa_start": 875,
"aa_end": null,
"aa_length": 958,
"cds_start": 2623,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015914.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283033.10"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2704C>G",
"hgvs_p": "p.Arg902Gly",
"transcript": "ENST00000356957.7",
"protein_id": "ENSP00000349439.3",
"transcript_support_level": 1,
"aa_start": 902,
"aa_end": null,
"aa_length": 985,
"cds_start": 2704,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356957.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2824C>G",
"hgvs_p": "p.Arg942Gly",
"transcript": "ENST00000907109.1",
"protein_id": "ENSP00000577168.1",
"transcript_support_level": null,
"aa_start": 942,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2824,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907109.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2743C>G",
"hgvs_p": "p.Arg915Gly",
"transcript": "ENST00000907105.1",
"protein_id": "ENSP00000577164.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 998,
"cds_start": 2743,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907105.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2740C>G",
"hgvs_p": "p.Arg914Gly",
"transcript": "ENST00000907106.1",
"protein_id": "ENSP00000577165.1",
"transcript_support_level": null,
"aa_start": 914,
"aa_end": null,
"aa_length": 997,
"cds_start": 2740,
"cds_end": null,
"cds_length": 2994,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907106.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2704C>G",
"hgvs_p": "p.Arg902Gly",
"transcript": "NM_001303447.2",
"protein_id": "NP_001290376.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 985,
"cds_start": 2704,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303447.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2566C>G",
"hgvs_p": "p.Arg856Gly",
"transcript": "ENST00000907111.1",
"protein_id": "ENSP00000577170.1",
"transcript_support_level": null,
"aa_start": 856,
"aa_end": null,
"aa_length": 939,
"cds_start": 2566,
"cds_end": null,
"cds_length": 2820,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907111.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2416C>G",
"hgvs_p": "p.Arg806Gly",
"transcript": "ENST00000907110.1",
"protein_id": "ENSP00000577169.1",
"transcript_support_level": null,
"aa_start": 806,
"aa_end": null,
"aa_length": 889,
"cds_start": 2416,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907110.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2308C>G",
"hgvs_p": "p.Arg770Gly",
"transcript": "ENST00000907108.1",
"protein_id": "ENSP00000577167.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 853,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907108.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2215C>G",
"hgvs_p": "p.Arg739Gly",
"transcript": "ENST00000907107.1",
"protein_id": "ENSP00000577166.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 822,
"cds_start": 2215,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907107.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.1981C>G",
"hgvs_p": "p.Arg661Gly",
"transcript": "NM_001324022.2",
"protein_id": "NP_001310951.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 744,
"cds_start": 1981,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324022.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.1516C>G",
"hgvs_p": "p.Arg506Gly",
"transcript": "ENST00000907112.1",
"protein_id": "ENSP00000577171.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 589,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907112.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.1267C>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "NM_001324024.2",
"protein_id": "NP_001310953.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 506,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324024.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.1267C>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "NM_001324025.2",
"protein_id": "NP_001310954.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 506,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324025.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2743C>G",
"hgvs_p": "p.Arg915Gly",
"transcript": "XM_011522515.3",
"protein_id": "XP_011520817.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 998,
"cds_start": 2743,
"cds_end": null,
"cds_length": 2997,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522515.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.2101C>G",
"hgvs_p": "p.Arg701Gly",
"transcript": "XM_047434191.1",
"protein_id": "XP_047290147.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 784,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434191.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "c.1267C>G",
"hgvs_p": "p.Arg423Gly",
"transcript": "XM_047434192.1",
"protein_id": "XP_047290148.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 506,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "n.833C>G",
"hgvs_p": null,
"transcript": "ENST00000570917.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000570917.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "n.1957C>G",
"hgvs_p": null,
"transcript": "NR_136671.2",
"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_136671.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "n.1844C>G",
"hgvs_p": null,
"transcript": "NR_136672.2",
"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_136672.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "n.1827C>G",
"hgvs_p": null,
"transcript": "NR_136673.2",
"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_136673.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"hgvs_c": "n.1714C>G",
"hgvs_p": null,
"transcript": "NR_136674.2",
"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_136674.2"
}
],
"gene_symbol": "TXNDC11",
"gene_hgnc_id": 28030,
"dbsnp": "rs768195000",
"frequency_reference_population": 0.00002789269,
"hom_count_reference_population": 1,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000280589,
"gnomad_genomes_af": 0.0000262957,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08159297704696655,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.044,
"revel_prediction": "Benign",
"alphamissense_score": 0.1104,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.07,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001303447.2",
"gene_symbol": "TXNDC11",
"hgnc_id": 28030,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2704C>G",
"hgvs_p": "p.Arg902Gly"
}
],
"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
}