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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: 5-122422903-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=122422903&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 122422903,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001308100.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "NM_005460.4",
"protein_id": "NP_005451.2",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261368.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005460.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000261368.13",
"protein_id": "ENSP00000261368.8",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005460.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261368.13"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Leu103Phe",
"transcript": "ENST00000261367.11",
"protein_id": "ENSP00000261367.7",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 1016,
"cds_start": 307,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261367.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.260C>T",
"hgvs_p": null,
"transcript": "ENST00000510003.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000510003.5"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.131-9066C>T",
"hgvs_p": null,
"transcript": "ENST00000508017.5",
"protein_id": "ENSP00000424338.1",
"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": "ENST00000508017.5"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "n.131-9066C>T",
"hgvs_p": null,
"transcript": "ENST00000512385.5",
"protein_id": "ENSP00000426280.1",
"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": "ENST00000512385.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Leu103Phe",
"transcript": "NM_001308100.2",
"protein_id": "NP_001295029.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 1016,
"cds_start": 307,
"cds_end": null,
"cds_length": 3051,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308100.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Leu103Phe",
"transcript": "ENST00000954322.1",
"protein_id": "ENSP00000624381.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 966,
"cds_start": 307,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954322.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Leu103Phe",
"transcript": "ENST00000954324.1",
"protein_id": "ENSP00000624383.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 966,
"cds_start": 307,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954324.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000893275.1",
"protein_id": "ENSP00000563334.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893275.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000893276.1",
"protein_id": "ENSP00000563335.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893276.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000893277.1",
"protein_id": "ENSP00000563336.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893277.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000893278.1",
"protein_id": "ENSP00000563337.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893278.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000893279.1",
"protein_id": "ENSP00000563338.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893279.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000893281.1",
"protein_id": "ENSP00000563340.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893281.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000893282.1",
"protein_id": "ENSP00000563341.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893282.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000928739.1",
"protein_id": "ENSP00000598798.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928739.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000954318.1",
"protein_id": "ENSP00000624377.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954318.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000954321.1",
"protein_id": "ENSP00000624380.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954321.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000954327.1",
"protein_id": "ENSP00000624386.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954327.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000954328.1",
"protein_id": "ENSP00000624387.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 919,
"cds_start": 166,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954328.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCAIP",
"gene_hgnc_id": 11139,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Leu56Phe",
"transcript": "ENST00000954323.1",
"protein_id": "ENSP00000624382.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 881,
"cds_start": 166,
"cds_end": null,
"cds_length": 2646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phylop100way_score": 7.019,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001308100.2",
"gene_symbol": "SNCAIP",
"hgnc_id": 11139,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.307C>T",
"hgvs_p": "p.Leu103Phe"
}
],
"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
}