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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: 10-13319298-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=13319298&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 13319298,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_012247.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "NM_012247.5",
"protein_id": "NP_036379.2",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327347.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012247.5"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "ENST00000327347.10",
"protein_id": "ENSP00000367893.3",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012247.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327347.10"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.821dupA",
"hgvs_p": "p.Ser275fs",
"transcript": "ENST00000545675.5",
"protein_id": "ENSP00000441119.2",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 325,
"cds_start": 821,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545675.5"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.809dupA",
"hgvs_p": "p.Ser271fs",
"transcript": "ENST00000378614.8",
"protein_id": "ENSP00000367877.3",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 321,
"cds_start": 809,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378614.8"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1133dupA",
"hgvs_p": "p.Ser379fs",
"transcript": "ENST00000948205.1",
"protein_id": "ENSP00000618264.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 429,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948205.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1106dupA",
"hgvs_p": "p.Ser370fs",
"transcript": "ENST00000925353.1",
"protein_id": "ENSP00000595412.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 420,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925353.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "ENST00000877592.1",
"protein_id": "ENSP00000547651.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877592.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "ENST00000925347.1",
"protein_id": "ENSP00000595406.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925347.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "ENST00000925348.1",
"protein_id": "ENSP00000595407.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925348.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "ENST00000925349.1",
"protein_id": "ENSP00000595408.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925349.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "ENST00000925351.1",
"protein_id": "ENSP00000595410.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925351.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "ENST00000925352.1",
"protein_id": "ENSP00000595411.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925352.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "ENST00000925355.1",
"protein_id": "ENSP00000595414.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925355.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1016dupA",
"hgvs_p": "p.Ser340fs",
"transcript": "NM_001375769.1",
"protein_id": "NP_001362698.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375769.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1016dupA",
"hgvs_p": "p.Ser340fs",
"transcript": "ENST00000877591.1",
"protein_id": "ENSP00000547650.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877591.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1016dupA",
"hgvs_p": "p.Ser340fs",
"transcript": "ENST00000925350.1",
"protein_id": "ENSP00000595409.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925350.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.821dupA",
"hgvs_p": "p.Ser275fs",
"transcript": "NM_001195602.2",
"protein_id": "NP_001182531.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 325,
"cds_start": 821,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195602.2"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.809dupA",
"hgvs_p": "p.Ser271fs",
"transcript": "NM_001195604.2",
"protein_id": "NP_001182533.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 321,
"cds_start": 809,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195604.2"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.464dupA",
"hgvs_p": "p.Ser156fs",
"transcript": "ENST00000925354.1",
"protein_id": "ENSP00000595413.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 206,
"cds_start": 464,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925354.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs",
"transcript": "XM_047424839.1",
"protein_id": "XP_047280795.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424839.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.1016dupA",
"hgvs_p": "p.Ser340fs",
"transcript": "XM_047424840.1",
"protein_id": "XP_047280796.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 390,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424840.1"
},
{
"aa_ref": "K",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "c.815dupA",
"hgvs_p": "p.Ser273fs",
"transcript": "XM_047424841.1",
"protein_id": "XP_047280797.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 323,
"cds_start": 815,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424841.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"hgvs_c": "n.1612dupA",
"hgvs_p": null,
"transcript": "NR_164738.1",
"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_164738.1"
}
],
"gene_symbol": "SEPHS1",
"gene_hgnc_id": 19685,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PVS1_Strong",
"PM2"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_012247.5",
"gene_symbol": "SEPHS1",
"hgnc_id": 19685,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1022dupA",
"hgvs_p": "p.Ser342fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}