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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: 19-14563700-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=14563700&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 14563700,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001321170.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.161C>G",
"hgvs_p": "p.Pro54Arg",
"transcript": "NM_138501.6",
"protein_id": "NP_612510.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 308,
"cds_start": 161,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215567.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138501.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.161C>G",
"hgvs_p": "p.Pro54Arg",
"transcript": "ENST00000215567.10",
"protein_id": "ENSP00000215567.4",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 308,
"cds_start": 161,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138501.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215567.10"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.275C>G",
"hgvs_p": "p.Pro92Arg",
"transcript": "ENST00000596073.6",
"protein_id": "ENSP00000472697.2",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 346,
"cds_start": 275,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596073.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.362C>G",
"hgvs_p": "p.Pro121Arg",
"transcript": "ENST00000971295.1",
"protein_id": "ENSP00000641354.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 375,
"cds_start": 362,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971295.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.290C>G",
"hgvs_p": "p.Pro97Arg",
"transcript": "ENST00000882755.1",
"protein_id": "ENSP00000552814.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 351,
"cds_start": 290,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882755.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.260C>G",
"hgvs_p": "p.Pro87Arg",
"transcript": "ENST00000882754.1",
"protein_id": "ENSP00000552813.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 341,
"cds_start": 260,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882754.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.257C>G",
"hgvs_p": "p.Pro86Arg",
"transcript": "ENST00000971296.1",
"protein_id": "ENSP00000641355.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 340,
"cds_start": 257,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971296.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.206C>G",
"hgvs_p": "p.Pro69Arg",
"transcript": "NM_001321170.1",
"protein_id": "NP_001308099.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 323,
"cds_start": 206,
"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": "NM_001321170.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.191C>G",
"hgvs_p": "p.Pro64Arg",
"transcript": "ENST00000971293.1",
"protein_id": "ENSP00000641352.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 318,
"cds_start": 191,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971293.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.161C>G",
"hgvs_p": "p.Pro54Arg",
"transcript": "ENST00000882753.1",
"protein_id": "ENSP00000552812.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 307,
"cds_start": 161,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882753.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Pro52Arg",
"transcript": "ENST00000882752.1",
"protein_id": "ENSP00000552811.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 306,
"cds_start": 155,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882752.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.161C>G",
"hgvs_p": "p.Pro54Arg",
"transcript": "ENST00000913609.1",
"protein_id": "ENSP00000583668.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 306,
"cds_start": 161,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913609.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.161C>G",
"hgvs_p": "p.Pro54Arg",
"transcript": "ENST00000971294.1",
"protein_id": "ENSP00000641353.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 299,
"cds_start": 161,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971294.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.110C>G",
"hgvs_p": "p.Pro37Arg",
"transcript": "ENST00000882756.1",
"protein_id": "ENSP00000552815.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 291,
"cds_start": 110,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882756.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.109C>G",
"hgvs_p": "p.Pro37Ala",
"transcript": "ENST00000882757.1",
"protein_id": "ENSP00000552816.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 279,
"cds_start": 109,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882757.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.161C>G",
"hgvs_p": "p.Pro54Arg",
"transcript": "ENST00000913612.1",
"protein_id": "ENSP00000583671.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 274,
"cds_start": 161,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913612.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.161C>G",
"hgvs_p": "p.Pro54Arg",
"transcript": "ENST00000913611.1",
"protein_id": "ENSP00000583670.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 269,
"cds_start": 161,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913611.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.260C>G",
"hgvs_p": "p.Pro87Arg",
"transcript": "XM_006722945.3",
"protein_id": "XP_006723008.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 341,
"cds_start": 260,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722945.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.224C>G",
"hgvs_p": "p.Pro75Arg",
"transcript": "XM_011528442.3",
"protein_id": "XP_011526744.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 329,
"cds_start": 224,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528442.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.-305C>G",
"hgvs_p": null,
"transcript": "XM_047439737.1",
"protein_id": "XP_047295693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.-305C>G",
"hgvs_p": null,
"transcript": "XM_047439737.1",
"protein_id": "XP_047295693.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TECR",
"gene_hgnc_id": 4551,
"hgvs_c": "c.67-102C>G",
"hgvs_p": null,
"transcript": "ENST00000882758.1",
"protein_id": "ENSP00000552817.1",
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"phenotype_combined": "Intellectual disability, autosomal recessive 14",
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}
],
"message": null
}