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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: 1-2557726-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2557726&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2557726,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_003820.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "NM_003820.4",
"protein_id": "NP_003811.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 283,
"cds_start": 70,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355716.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003820.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000355716.5",
"protein_id": "ENSP00000347948.4",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 283,
"cds_start": 70,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003820.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355716.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "n.70+1271G>A",
"hgvs_p": null,
"transcript": "ENST00000475523.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000475523.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860787.1",
"protein_id": "ENSP00000530846.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 371,
"cds_start": 70,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860787.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860789.1",
"protein_id": "ENSP00000530848.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 356,
"cds_start": 70,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860789.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860790.1",
"protein_id": "ENSP00000530849.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 314,
"cds_start": 70,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860790.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860791.1",
"protein_id": "ENSP00000530850.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 290,
"cds_start": 70,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860791.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860781.1",
"protein_id": "ENSP00000530840.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 283,
"cds_start": 70,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860781.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860782.1",
"protein_id": "ENSP00000530841.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 283,
"cds_start": 70,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860782.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860783.1",
"protein_id": "ENSP00000530842.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 283,
"cds_start": 70,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860783.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860784.1",
"protein_id": "ENSP00000530843.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 283,
"cds_start": 70,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860784.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860786.1",
"protein_id": "ENSP00000530845.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 283,
"cds_start": 70,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860786.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000972443.1",
"protein_id": "ENSP00000642502.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 283,
"cds_start": 70,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972443.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860788.1",
"protein_id": "ENSP00000530847.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 281,
"cds_start": 70,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860788.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000972445.1",
"protein_id": "ENSP00000642504.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 277,
"cds_start": 70,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972445.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000972446.1",
"protein_id": "ENSP00000642505.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 269,
"cds_start": 70,
"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": "ENST00000972446.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000972444.1",
"protein_id": "ENSP00000642503.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 266,
"cds_start": 70,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972444.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000860785.1",
"protein_id": "ENSP00000530844.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 262,
"cds_start": 70,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860785.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000434817.5",
"protein_id": "ENSP00000415254.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 230,
"cds_start": 70,
"cds_end": null,
"cds_length": 694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434817.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000435221.6",
"protein_id": "ENSP00000399292.2",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 230,
"cds_start": 70,
"cds_end": null,
"cds_length": 694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435221.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TNFRSF14",
"gene_hgnc_id": 11912,
"hgvs_c": "c.70G>A",
"hgvs_p": "p.Val24Met",
"transcript": "ENST00000451778.5",
"protein_id": "ENSP00000399533.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 230,
"cds_start": 70,
"cds_end": null,
"cds_length": 694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451778.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}