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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: X-102750050-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=102750050&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 102750050,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000457056.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001142524.2",
"protein_id": "NP_001135996.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 5155,
"mane_select": "ENST00000457056.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "ENST00000457056.6",
"protein_id": "ENSP00000403226.1",
"transcript_support_level": 4,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1665,
"cdna_end": null,
"cdna_length": 5155,
"mane_select": "NM_001142524.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "ENST00000361229.8",
"protein_id": "ENSP00000354675.4",
"transcript_support_level": 1,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5-GPRASP2",
"gene_hgnc_id": 42000,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "ENST00000652409.1",
"protein_id": "ENSP00000498643.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001142525.2",
"protein_id": "NP_001135997.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001142526.2",
"protein_id": "NP_001135998.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1597,
"cdna_end": null,
"cdna_length": 5087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001142527.2",
"protein_id": "NP_001135999.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001142528.2",
"protein_id": "NP_001136000.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1581,
"cdna_end": null,
"cdna_length": 5071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001142529.1",
"protein_id": "NP_001136001.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001142530.1",
"protein_id": "NP_001136002.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5-GPRASP2",
"gene_hgnc_id": 42000,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001350268.2",
"protein_id": "NP_001337197.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5-GPRASP2",
"gene_hgnc_id": 42000,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001350269.2",
"protein_id": "NP_001337198.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 2057,
"cdna_end": null,
"cdna_length": 5547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX5-GPRASP2",
"gene_hgnc_id": 42000,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_001350270.1",
"protein_id": "NP_001337199.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 5578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "NM_030639.3",
"protein_id": "NP_085142.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1566,
"cdna_end": null,
"cdna_length": 5056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "ENST00000372735.1",
"protein_id": "ENSP00000361820.1",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 5130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "ENST00000447531.5",
"protein_id": "ENSP00000405893.1",
"transcript_support_level": 4,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 4031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser",
"transcript": "ENST00000448867.1",
"protein_id": "ENSP00000391722.1",
"transcript_support_level": 4,
"aa_start": 352,
"aa_end": null,
"aa_length": 547,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1644,
"cdna_start": 1548,
"cdna_end": null,
"cdna_length": 3936,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00630",
"gene_hgnc_id": 44263,
"hgvs_c": "n.256+28959A>G",
"hgvs_p": null,
"transcript": "ENST00000717311.1",
"protein_id": null,
"transcript_support_level": null,
"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": 982,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "LINC00630",
"gene_hgnc_id": 44263,
"hgvs_c": "n.150+29023A>G",
"hgvs_p": null,
"transcript": "ENST00000717312.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2086,
"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": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ARMCX5-GPRASP2",
"gene_hgnc_id": 42000,
"hgvs_c": "n.1218+28959A>G",
"hgvs_p": null,
"transcript": "NR_146584.3",
"protein_id": null,
"transcript_support_level": null,
"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": 5614,
"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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ARMCX5-GPRASP2",
"gene_hgnc_id": 42000,
"hgvs_c": "n.610+29023A>G",
"hgvs_p": null,
"transcript": "NR_146587.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GPRASP3",
"gene_hgnc_id": 29353,
"dbsnp": "rs146078473",
"frequency_reference_population": 0.00014077222,
"hom_count_reference_population": 49,
"allele_count_reference_population": 169,
"gnomad_exomes_af": 0.000147913,
"gnomad_genomes_af": 0.0000714018,
"gnomad_exomes_ac": 161,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020377516746520996,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.0749,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.79,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.101,
"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": -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": "ENST00000457056.6",
"gene_symbol": "GPRASP3",
"hgnc_id": 29353,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000652409.1",
"gene_symbol": "ARMCX5-GPRASP2",
"hgnc_id": 42000,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1055A>G",
"hgvs_p": "p.Asn352Ser"
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000717311.1",
"gene_symbol": "LINC00630",
"hgnc_id": 44263,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.256+28959A>G",
"hgvs_p": null
}
],
"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
}