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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: 1-99892551-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=99892551&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 99892551,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000028.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "NM_000642.3",
"protein_id": "NP_000633.2",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361915.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000642.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000361915.8",
"protein_id": "ENSP00000355106.3",
"transcript_support_level": 1,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000642.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361915.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000294724.8",
"protein_id": "ENSP00000294724.4",
"transcript_support_level": 1,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000294724.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000370163.7",
"protein_id": "ENSP00000359182.3",
"transcript_support_level": 1,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370163.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000370165.7",
"protein_id": "ENSP00000359184.3",
"transcript_support_level": 1,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370165.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.*3139A>G",
"hgvs_p": null,
"transcript": "ENST00000361302.7",
"protein_id": "ENSP00000354971.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000361302.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.3414A>G",
"hgvs_p": null,
"transcript": "ENST00000637337.1",
"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": "ENST00000637337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "n.*3139A>G",
"hgvs_p": null,
"transcript": "ENST00000361302.7",
"protein_id": "ENSP00000354971.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000361302.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "NM_000028.3",
"protein_id": "NP_000019.2",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000028.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "NM_000643.3",
"protein_id": "NP_000634.2",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000643.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "NM_000644.3",
"protein_id": "NP_000635.2",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000644.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "NM_001425325.1",
"protein_id": "NP_001412254.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425325.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000881254.1",
"protein_id": "ENSP00000551313.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881254.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000881255.1",
"protein_id": "ENSP00000551314.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881255.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000911800.1",
"protein_id": "ENSP00000581859.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911800.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000965591.1",
"protein_id": "ENSP00000635650.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965591.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000965592.1",
"protein_id": "ENSP00000635651.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965592.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3203A>G",
"hgvs_p": "p.Tyr1068Cys",
"transcript": "ENST00000965593.1",
"protein_id": "ENSP00000635652.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1532,
"cds_start": 3203,
"cds_end": null,
"cds_length": 4599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965593.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3191A>G",
"hgvs_p": "p.Tyr1064Cys",
"transcript": "ENST00000965590.1",
"protein_id": "ENSP00000635649.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1528,
"cds_start": 3191,
"cds_end": null,
"cds_length": 4587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965590.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3182A>G",
"hgvs_p": "p.Tyr1061Cys",
"transcript": "NM_001425326.1",
"protein_id": "NP_001412255.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3182,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425326.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3182A>G",
"hgvs_p": "p.Tyr1061Cys",
"transcript": "ENST00000911802.1",
"protein_id": "ENSP00000581861.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1525,
"cds_start": 3182,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911802.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AGL",
"gene_hgnc_id": 321,
"hgvs_c": "c.3155A>G",
"hgvs_p": "p.Tyr1052Cys",
"transcript": "NM_000646.3",
"protein_id": "NP_000637.2",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3155,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
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}
],
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}