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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: 2-1792367-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=1792367&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 1792367,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001303052.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "NM_001303052.2",
"protein_id": "NP_001289981.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647738.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303052.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "ENST00000647738.2",
"protein_id": "ENSP00000497479.2",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001303052.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647738.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "ENST00000428368.7",
"protein_id": "ENSP00000396103.3",
"transcript_support_level": 1,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428368.7"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3368G>A",
"hgvs_p": "p.Ser1123Asn",
"transcript": "ENST00000399161.8",
"protein_id": "ENSP00000382114.3",
"transcript_support_level": 1,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3368,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399161.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Ser123Asn",
"transcript": "ENST00000407844.6",
"protein_id": "ENSP00000384219.1",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 184,
"cds_start": 368,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407844.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3437G>A",
"hgvs_p": "p.Ser1146Asn",
"transcript": "ENST00000644820.1",
"protein_id": "ENSP00000496210.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3437,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644820.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "NM_001329844.2",
"protein_id": "NP_001316773.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329844.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "NM_001329845.1",
"protein_id": "NP_001316774.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329845.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "ENST00000647694.1",
"protein_id": "ENSP00000497722.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647694.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "ENST00000650485.2",
"protein_id": "ENSP00000497068.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650485.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "ENST00000892482.1",
"protein_id": "ENSP00000562541.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892482.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3371G>A",
"hgvs_p": "p.Ser1124Asn",
"transcript": "ENST00000650560.1",
"protein_id": "ENSP00000497816.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1185,
"cds_start": 3371,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650560.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3368G>A",
"hgvs_p": "p.Ser1123Asn",
"transcript": "NM_001329847.2",
"protein_id": "NP_001316776.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3368,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329847.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3368G>A",
"hgvs_p": "p.Ser1123Asn",
"transcript": "NM_001329848.1",
"protein_id": "NP_001316777.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3368,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329848.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3368G>A",
"hgvs_p": "p.Ser1123Asn",
"transcript": "NM_015025.4",
"protein_id": "NP_055840.2",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3368,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015025.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3368G>A",
"hgvs_p": "p.Ser1123Asn",
"transcript": "ENST00000648316.1",
"protein_id": "ENSP00000497870.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3368,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648316.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3368G>A",
"hgvs_p": "p.Ser1123Asn",
"transcript": "ENST00000648928.1",
"protein_id": "ENSP00000497017.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3368,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648928.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3368G>A",
"hgvs_p": "p.Ser1123Asn",
"transcript": "ENST00000649207.1",
"protein_id": "ENSP00000496986.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3368,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649207.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "NM_001329849.3",
"protein_id": "NP_001316778.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3374,
"cds_end": null,
"cds_length": 3447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329849.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3374G>A",
"hgvs_p": "p.Ser1125Asn",
"transcript": "ENST00000648665.2",
"protein_id": "ENSP00000497115.1",
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"aa_start": 1125,
"aa_end": null,
"aa_length": 1148,
"cds_start": 3374,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648665.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3368G>A",
"hgvs_p": "p.Ser1123Asn",
"transcript": "NM_001329846.3",
"protein_id": "NP_001316775.1",
"transcript_support_level": null,
"aa_start": 1123,
"aa_end": null,
"aa_length": 1146,
"cds_start": 3368,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329846.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYT1L",
"gene_hgnc_id": 7623,
"hgvs_c": "c.3368G>A",
"hgvs_p": "p.Ser1123Asn",
"transcript": "ENST00000647755.1",
"protein_id": "ENSP00000496922.1",
"transcript_support_level": null,
"aa_start": 1123,
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"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}