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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: 7-56068502-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=56068502&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 56068502,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001366648.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "NM_015411.4",
"protein_id": "NP_056226.3",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 301,
"cds_start": 88,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000434526.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015411.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "ENST00000434526.8",
"protein_id": "ENSP00000400922.3",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 301,
"cds_start": 88,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015411.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434526.8"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "ENST00000342190.11",
"protein_id": "ENSP00000341938.7",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 339,
"cds_start": 88,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342190.11"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "ENST00000395436.7",
"protein_id": "ENSP00000378824.3",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 286,
"cds_start": 88,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395436.7"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.-41+4124A>G",
"hgvs_p": null,
"transcript": "ENST00000275607.13",
"protein_id": "ENSP00000275607.9",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000275607.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "n.88A>G",
"hgvs_p": null,
"transcript": "ENST00000436782.5",
"protein_id": "ENSP00000407954.1",
"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": "ENST00000436782.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "n.88A>G",
"hgvs_p": null,
"transcript": "ENST00000438133.5",
"protein_id": "ENSP00000393423.1",
"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": "ENST00000438133.5"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "n.67+4124A>G",
"hgvs_p": null,
"transcript": "ENST00000452216.5",
"protein_id": "ENSP00000415322.1",
"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": "ENST00000452216.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Met49Val",
"transcript": "ENST00000652303.1",
"protein_id": "ENSP00000498402.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 358,
"cds_start": 145,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652303.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "NM_001366648.2",
"protein_id": "NP_001353577.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 352,
"cds_start": 88,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366648.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "ENST00000413756.5",
"protein_id": "ENSP00000406445.1",
"transcript_support_level": 5,
"aa_start": 30,
"aa_end": null,
"aa_length": 352,
"cds_start": 88,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413756.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "NM_001130069.4",
"protein_id": "NP_001123541.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 339,
"cds_start": 88,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130069.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "NM_001366647.2",
"protein_id": "NP_001353576.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 337,
"cds_start": 88,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366647.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Met49Val",
"transcript": "ENST00000651354.1",
"protein_id": "ENSP00000498746.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 320,
"cds_start": 145,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651354.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "ENST00000911046.1",
"protein_id": "ENSP00000581105.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 317,
"cds_start": 88,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911046.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "ENST00000911045.1",
"protein_id": "ENSP00000581104.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 313,
"cds_start": 88,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911045.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "ENST00000966155.1",
"protein_id": "ENSP00000636214.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 306,
"cds_start": 88,
"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": "ENST00000966155.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Met49Val",
"transcript": "ENST00000651586.1",
"protein_id": "ENSP00000498981.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 305,
"cds_start": 145,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651586.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "NM_001042468.3",
"protein_id": "NP_001035933.3",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 304,
"cds_start": 88,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042468.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.79A>G",
"hgvs_p": "p.Met27Val",
"transcript": "ENST00000451338.1",
"protein_id": "ENSP00000410796.1",
"transcript_support_level": 3,
"aa_start": 27,
"aa_end": null,
"aa_length": 303,
"cds_start": 79,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451338.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Met47Val",
"transcript": "ENST00000911043.1",
"protein_id": "ENSP00000581102.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 303,
"cds_start": 139,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911043.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUMF2",
"gene_hgnc_id": 20415,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Met30Val",
"transcript": "ENST00000911044.1",
"protein_id": "ENSP00000581103.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 289,
"cds_start": 88,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911044.1"
},
{
"aa_ref": "M",
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}