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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: 1-98685048-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=98685048&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 98685048,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015976.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "NM_015976.5",
"protein_id": "NP_057060.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 451,
"cds_start": 344,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000306121.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015976.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "ENST00000306121.8",
"protein_id": "ENSP00000304429.3",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 451,
"cds_start": 344,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015976.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306121.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "n.*164C>T",
"hgvs_p": null,
"transcript": "ENST00000528824.1",
"protein_id": "ENSP00000435172.1",
"transcript_support_level": 1,
"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": "ENST00000528824.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "n.*164C>T",
"hgvs_p": null,
"transcript": "ENST00000528824.1",
"protein_id": "ENSP00000435172.1",
"transcript_support_level": 1,
"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": "ENST00000528824.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "ENST00000971618.1",
"protein_id": "ENSP00000641677.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 461,
"cds_start": 344,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971618.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "ENST00000851356.1",
"protein_id": "ENSP00000521415.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 444,
"cds_start": 344,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851356.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "ENST00000851357.1",
"protein_id": "ENSP00000521416.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 422,
"cds_start": 344,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851357.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "ENST00000851355.1",
"protein_id": "ENSP00000521414.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 400,
"cds_start": 344,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851355.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "NM_152238.4",
"protein_id": "NP_689424.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 396,
"cds_start": 344,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152238.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "ENST00000529992.5",
"protein_id": "ENSP00000434731.1",
"transcript_support_level": 2,
"aa_start": 115,
"aa_end": null,
"aa_length": 396,
"cds_start": 344,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529992.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Thr51Met",
"transcript": "NM_001364903.1",
"protein_id": "NP_001351832.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 387,
"cds_start": 152,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364903.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "ENST00000924674.1",
"protein_id": "ENSP00000594733.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 359,
"cds_start": 344,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924674.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "ENST00000971617.1",
"protein_id": "ENSP00000641676.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 345,
"cds_start": 344,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971617.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "ENST00000971616.1",
"protein_id": "ENSP00000641675.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 308,
"cds_start": 344,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971616.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Thr51Met",
"transcript": "ENST00000454199.1",
"protein_id": "ENSP00000388266.1",
"transcript_support_level": 4,
"aa_start": 51,
"aa_end": null,
"aa_length": 107,
"cds_start": 152,
"cds_end": null,
"cds_length": 325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454199.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met",
"transcript": "XM_006710677.3",
"protein_id": "XP_006710740.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 400,
"cds_start": 344,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710677.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Thr51Met",
"transcript": "XM_011541564.4",
"protein_id": "XP_011539866.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 387,
"cds_start": 152,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541564.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Thr51Met",
"transcript": "XM_017001425.3",
"protein_id": "XP_016856914.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 387,
"cds_start": 152,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001425.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Thr51Met",
"transcript": "XM_047422248.1",
"protein_id": "XP_047278204.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 387,
"cds_start": 152,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422248.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Thr51Met",
"transcript": "XM_017001428.2",
"protein_id": "XP_016856917.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 336,
"cds_start": 152,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001428.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"hgvs_c": "n.475C>T",
"hgvs_p": null,
"transcript": "NR_033716.2",
"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_033716.2"
}
],
"gene_symbol": "SNX7",
"gene_hgnc_id": 14971,
"dbsnp": "rs371219132",
"frequency_reference_population": 0.0000404013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 62,
"gnomad_exomes_af": 0.0000419516,
"gnomad_genomes_af": 0.0000263058,
"gnomad_exomes_ac": 58,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5104371309280396,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.211,
"revel_prediction": "Benign",
"alphamissense_score": 0.1968,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.163,
"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": 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_015976.5",
"gene_symbol": "SNX7",
"hgnc_id": 14971,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.344C>T",
"hgvs_p": "p.Thr115Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}