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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: 20-35004513-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=35004513&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 35004513,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015638.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1994A>G",
"hgvs_p": "p.Gln665Arg",
"transcript": "NM_015638.3",
"protein_id": "NP_056453.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 797,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252015.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015638.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1994A>G",
"hgvs_p": "p.Gln665Arg",
"transcript": "ENST00000252015.3",
"protein_id": "ENSP00000252015.2",
"transcript_support_level": 1,
"aa_start": 665,
"aa_end": null,
"aa_length": 797,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015638.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252015.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Gln763Arg",
"transcript": "ENST00000970992.1",
"protein_id": "ENSP00000641051.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 895,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970992.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1994A>G",
"hgvs_p": "p.Gln665Arg",
"transcript": "ENST00000888656.1",
"protein_id": "ENSP00000558715.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 839,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888656.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Gln657Arg",
"transcript": "ENST00000888655.1",
"protein_id": "ENSP00000558714.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 831,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888655.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.2054A>G",
"hgvs_p": "p.Gln685Arg",
"transcript": "ENST00000937644.1",
"protein_id": "ENSP00000607703.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 817,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937644.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.2030A>G",
"hgvs_p": "p.Gln677Arg",
"transcript": "ENST00000970995.1",
"protein_id": "ENSP00000641054.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 809,
"cds_start": 2030,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970995.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1994A>G",
"hgvs_p": "p.Gln665Arg",
"transcript": "ENST00000888645.1",
"protein_id": "ENSP00000558704.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 797,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2394,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888645.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1994A>G",
"hgvs_p": "p.Gln665Arg",
"transcript": "ENST00000937641.1",
"protein_id": "ENSP00000607700.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 796,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937641.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1991A>G",
"hgvs_p": "p.Gln664Arg",
"transcript": "ENST00000970990.1",
"protein_id": "ENSP00000641049.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 796,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970990.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Gln663Arg",
"transcript": "ENST00000888647.1",
"protein_id": "ENSP00000558706.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 795,
"cds_start": 1988,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888647.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Gln657Arg",
"transcript": "NM_199368.2",
"protein_id": "NP_955400.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 789,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199368.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Gln657Arg",
"transcript": "ENST00000451813.6",
"protein_id": "ENSP00000400614.1",
"transcript_support_level": 2,
"aa_start": 657,
"aa_end": null,
"aa_length": 789,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451813.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Gln657Arg",
"transcript": "ENST00000970988.1",
"protein_id": "ENSP00000641047.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 789,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970988.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1967A>G",
"hgvs_p": "p.Gln656Arg",
"transcript": "ENST00000937646.1",
"protein_id": "ENSP00000607705.1",
"transcript_support_level": null,
"aa_start": 656,
"aa_end": null,
"aa_length": 788,
"cds_start": 1967,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937646.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1970A>G",
"hgvs_p": "p.Gln657Arg",
"transcript": "ENST00000970994.1",
"protein_id": "ENSP00000641053.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 788,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970994.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1964A>G",
"hgvs_p": "p.Gln655Arg",
"transcript": "ENST00000888654.1",
"protein_id": "ENSP00000558713.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 787,
"cds_start": 1964,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888654.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1994A>G",
"hgvs_p": "p.Gln665Arg",
"transcript": "ENST00000888657.1",
"protein_id": "ENSP00000558716.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 787,
"cds_start": 1994,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888657.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1943A>G",
"hgvs_p": "p.Gln648Arg",
"transcript": "ENST00000970989.1",
"protein_id": "ENSP00000641048.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 780,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970989.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1934A>G",
"hgvs_p": "p.Gln645Arg",
"transcript": "ENST00000970991.1",
"protein_id": "ENSP00000641050.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 777,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970991.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1931A>G",
"hgvs_p": "p.Gln644Arg",
"transcript": "ENST00000937648.1",
"protein_id": "ENSP00000607707.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 776,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937648.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"hgvs_c": "c.1880A>G",
"hgvs_p": "p.Gln627Arg",
"transcript": "ENST00000888650.1",
"protein_id": "ENSP00000558709.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 759,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
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"aa_length": 399,
"cds_start": 800,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440102.1"
}
],
"gene_symbol": "TRPC4AP",
"gene_hgnc_id": 16181,
"dbsnp": "rs775280311",
"frequency_reference_population": 0.00001796758,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000177865,
"gnomad_genomes_af": 0.0000197065,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03795608878135681,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.1256,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.805,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015638.3",
"gene_symbol": "TRPC4AP",
"hgnc_id": 16181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1994A>G",
"hgvs_p": "p.Gln665Arg"
}
],
"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
}