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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: 4-2898279-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2898279&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 2898279,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001354761.2",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "NM_001354761.2",
"protein_id": "NP_001341690.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 799,
"cds_start": 837,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": "ENST00000683351.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354761.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000683351.1",
"protein_id": "ENSP00000508142.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 799,
"cds_start": 837,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": "NM_001354761.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683351.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000355842.7",
"protein_id": "ENSP00000348100.3",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 662,
"cds_start": 837,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 1700,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355842.7"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000398123.6",
"protein_id": "ENSP00000381191.2",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 662,
"cds_start": 837,
"cds_end": null,
"cds_length": 1989,
"cdna_start": 857,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398123.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000857027.1",
"protein_id": "ENSP00000527086.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 799,
"cds_start": 837,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857027.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000948356.1",
"protein_id": "ENSP00000618415.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 799,
"cds_start": 837,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948356.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "NM_001354756.2",
"protein_id": "NP_001341685.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354756.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "NM_014189.4",
"protein_id": "NP_054908.2",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 4047,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014189.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000264758.11",
"protein_id": "ENSP00000264758.6",
"transcript_support_level": 5,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264758.11"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000857014.1",
"protein_id": "ENSP00000527073.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1023,
"cdna_end": null,
"cdna_length": 4051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857014.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000857022.1",
"protein_id": "ENSP00000527081.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857022.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000857023.1",
"protein_id": "ENSP00000527082.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 4065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857023.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000857028.1",
"protein_id": "ENSP00000527087.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857028.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000857029.1",
"protein_id": "ENSP00000527088.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857029.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000948354.1",
"protein_id": "ENSP00000618413.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1066,
"cdna_end": null,
"cdna_length": 4095,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948354.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000948363.1",
"protein_id": "ENSP00000618422.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 952,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948363.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000948364.1",
"protein_id": "ENSP00000618423.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 768,
"cds_start": 837,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948364.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "ENST00000948361.1",
"protein_id": "ENSP00000618420.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 759,
"cds_start": 837,
"cds_end": null,
"cds_length": 2280,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 3953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948361.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.756T>C",
"hgvs_p": "p.Asp252Asp",
"transcript": "ENST00000948358.1",
"protein_id": "ENSP00000618417.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 741,
"cds_start": 756,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 3933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948358.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "NM_001119.5",
"protein_id": "NP_001110.2",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 737,
"cds_start": 837,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001119.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "NM_001354754.2",
"protein_id": "NP_001341683.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 737,
"cds_start": 837,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 3969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354754.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp",
"transcript": "NM_001354755.2",
"protein_id": "NP_001341684.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 737,
"cds_start": 837,
"cds_end": null,
"cds_length": 2214,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
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"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"hgvs_c": "c.-154T>C",
"hgvs_p": null,
"transcript": "ENST00000514940.5",
"protein_id": "ENSP00000424143.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": null,
"cds_end": null,
"cds_length": 1330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514940.5"
}
],
"gene_symbol": "ADD1",
"gene_hgnc_id": 243,
"dbsnp": "rs144809220",
"frequency_reference_population": 0.0007396981,
"hom_count_reference_population": 5,
"allele_count_reference_population": 1194,
"gnomad_exomes_af": 0.000703197,
"gnomad_genomes_af": 0.00109011,
"gnomad_exomes_ac": 1028,
"gnomad_genomes_ac": 166,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.502,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001354761.2",
"gene_symbol": "ADD1",
"hgnc_id": 243,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.837T>C",
"hgvs_p": "p.Asp279Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}