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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: 7-23506228-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=23506228&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 23506228,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_013293.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.680G>T",
"hgvs_p": "p.Gly227Val",
"transcript": "NM_013293.5",
"protein_id": "NP_037425.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 282,
"cds_start": 680,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297071.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013293.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.680G>T",
"hgvs_p": "p.Gly227Val",
"transcript": "ENST00000297071.9",
"protein_id": "ENSP00000297071.4",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 282,
"cds_start": 680,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013293.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297071.9"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.677G>T",
"hgvs_p": "p.Gly226Val",
"transcript": "ENST00000870823.1",
"protein_id": "ENSP00000540882.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 281,
"cds_start": 677,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870823.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.611G>T",
"hgvs_p": "p.Gly204Val",
"transcript": "ENST00000870824.1",
"protein_id": "ENSP00000540883.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 259,
"cds_start": 611,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870824.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.491G>T",
"hgvs_p": "p.Gly164Val",
"transcript": "NM_001362759.2",
"protein_id": "NP_001349688.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 219,
"cds_start": 491,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362759.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.491G>T",
"hgvs_p": "p.Gly164Val",
"transcript": "ENST00000870822.1",
"protein_id": "ENSP00000540881.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 219,
"cds_start": 491,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870822.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.488G>T",
"hgvs_p": "p.Gly163Val",
"transcript": "ENST00000923622.1",
"protein_id": "ENSP00000593681.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 218,
"cds_start": 488,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923622.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.380G>T",
"hgvs_p": "p.Gly127Val",
"transcript": "ENST00000923620.1",
"protein_id": "ENSP00000593679.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 182,
"cds_start": 380,
"cds_end": null,
"cds_length": 549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923620.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "NM_001282757.2",
"protein_id": "NP_001269686.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 181,
"cds_start": 377,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282757.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "NM_001282758.2",
"protein_id": "NP_001269687.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 181,
"cds_start": 377,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282758.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "NM_001362760.2",
"protein_id": "NP_001349689.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 181,
"cds_start": 377,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362760.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "NM_001362761.2",
"protein_id": "NP_001349690.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 181,
"cds_start": 377,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362761.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "ENST00000621813.4",
"protein_id": "ENSP00000480822.1",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 181,
"cds_start": 377,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621813.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "NM_001282759.2",
"protein_id": "NP_001269688.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 180,
"cds_start": 377,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282759.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "ENST00000392502.8",
"protein_id": "ENSP00000376290.4",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 180,
"cds_start": 377,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392502.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.191G>T",
"hgvs_p": "p.Gly64Val",
"transcript": "ENST00000923621.1",
"protein_id": "ENSP00000593680.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 119,
"cds_start": 191,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923621.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "XM_047420284.1",
"protein_id": "XP_047276240.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 181,
"cds_start": 377,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420284.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "c.377G>T",
"hgvs_p": "p.Gly126Val",
"transcript": "XM_047420285.1",
"protein_id": "XP_047276241.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 181,
"cds_start": 377,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "n.253G>T",
"hgvs_p": null,
"transcript": "ENST00000482395.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000482395.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "n.*801G>T",
"hgvs_p": null,
"transcript": "ENST00000538367.6",
"protein_id": "ENSP00000441116.2",
"transcript_support_level": 2,
"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": "ENST00000538367.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "n.*801G>T",
"hgvs_p": null,
"transcript": "ENST00000538367.6",
"protein_id": "ENSP00000441116.2",
"transcript_support_level": 2,
"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": "ENST00000538367.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "n.-20G>T",
"hgvs_p": null,
"transcript": "ENST00000486934.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000486934.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"hgvs_c": "n.-22G>T",
"hgvs_p": null,
"transcript": "ENST00000497730.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000497730.1"
}
],
"gene_symbol": "TRA2A",
"gene_hgnc_id": 16645,
"dbsnp": "rs371167724",
"frequency_reference_population": 0.000023569224,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.000024653,
"gnomad_genomes_af": 0.0000131574,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.743420422077179,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.449,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1783,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.058,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013293.5",
"gene_symbol": "TRA2A",
"hgnc_id": 16645,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.680G>T",
"hgvs_p": "p.Gly227Val"
}
],
"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
}