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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: 20-18554303-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18554303&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 18554303,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_006363.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "NM_006363.6",
"protein_id": "NP_006354.2",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000650089.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006363.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000650089.1",
"protein_id": "ENSP00000497473.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006363.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650089.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000336714.8",
"protein_id": "ENSP00000338844.3",
"transcript_support_level": 1,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336714.8"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000377465.6",
"protein_id": "ENSP00000366685.1",
"transcript_support_level": 1,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377465.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "NM_001172745.3",
"protein_id": "NP_001166216.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172745.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "NM_032985.6",
"protein_id": "NP_116780.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032985.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "NM_032986.5",
"protein_id": "NP_116781.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032986.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000262544.6",
"protein_id": "ENSP00000262544.2",
"transcript_support_level": 5,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262544.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000874272.1",
"protein_id": "ENSP00000544331.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874272.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000874276.1",
"protein_id": "ENSP00000544335.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874276.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000874279.1",
"protein_id": "ENSP00000544338.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874279.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000874280.1",
"protein_id": "ENSP00000544339.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874280.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000874281.1",
"protein_id": "ENSP00000544340.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874281.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000949712.1",
"protein_id": "ENSP00000619771.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949712.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000949713.1",
"protein_id": "ENSP00000619772.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 767,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949713.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Leu686Leu",
"transcript": "ENST00000874274.1",
"protein_id": "ENSP00000544333.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 766,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874274.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2058G>T",
"hgvs_p": "p.Leu686Leu",
"transcript": "ENST00000949715.1",
"protein_id": "ENSP00000619774.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 766,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949715.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2052G>T",
"hgvs_p": "p.Leu684Leu",
"transcript": "ENST00000929134.1",
"protein_id": "ENSP00000599193.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 764,
"cds_start": 2052,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929134.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000874284.1",
"protein_id": "ENSP00000544343.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 753,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874284.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2061G>T",
"hgvs_p": "p.Leu687Leu",
"transcript": "ENST00000929133.1",
"protein_id": "ENSP00000599192.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 753,
"cds_start": 2061,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929133.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2007G>T",
"hgvs_p": "p.Leu669Leu",
"transcript": "NM_001172746.3",
"protein_id": "NP_001166217.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 749,
"cds_start": 2007,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172746.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC23B",
"gene_hgnc_id": 10702,
"hgvs_c": "c.2007G>T",
"hgvs_p": "p.Leu669Leu",
"transcript": "ENST00000643747.1",
"protein_id": "ENSP00000496460.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 749,
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{
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"phenotype_combined": "not specified|Congenital dyserythropoietic anemia, type II|Congenital dyserythropoietic anemia, type II;Cowden syndrome 7|not provided",
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}
],
"message": null
}